---
MAF: ~
ambiguity: R
clinical_significance:
- benign
- risk factor
evidence:
- Frequency
- 1000Genomes
- Cited
- ESP
- Phenotype_or_Disease
- ExAC
- TOPMed
- gnomAD
mappings:
-
allele_string: A/G
ancestral_allele: G
assembly_name: GRCh38
coord_system: chromosome
end: 230710048
location: 1:230710048-230710048
seq_region_name: 1
start: 230710048
strand: 1
minor_allele: ~
most_severe_consequence: missense_variant
name: rs699
populations:
-
allele: A
allele_count: 5109
frequency: '0.1526'
population: gnomADe:afr
-
allele: G
allele_count: 28371
frequency: '0.8474'
population: gnomADe:afr
-
allele: G
allele_count: 53082
frequency: '0.6154'
population: gnomADe:sas
-
allele: A
allele_count: 33168
frequency: '0.3846'
population: gnomADe:sas
-
allele: A
allele_count: 792223
frequency: '0.542'
population: gnomADe:ALL
-
allele: G
allele_count: 669469
frequency: '0.458'
population: gnomADe:ALL
-
allele: A
allele_count: 30042
frequency: '0.5635'
population: gnomADe:fin
-
allele: G
allele_count: 23270
frequency: '0.4365'
population: gnomADe:fin
-
allele: A
allele_count: 30366
frequency: '0.5028'
population: gnomADe:remaining
-
allele: G
allele_count: 30028
frequency: '0.4972'
population: gnomADe:remaining
-
allele: G
allele_count: 32760
frequency: '0.8252'
population: gnomADe:eas
-
allele: A
allele_count: 6938
frequency: '0.1748'
population: gnomADe:eas
-
allele: G
allele_count: 31723
frequency: '0.7093'
population: gnomADe:amr
-
allele: A
allele_count: 13001
frequency: '0.2907'
population: gnomADe:amr
-
allele: G
allele_count: 11332
frequency: '0.4336'
population: gnomADe:asj
-
allele: A
allele_count: 14802
frequency: '0.5664'
population: gnomADe:asj
-
allele: A
allele_count: 2680
frequency: '0.4646'
population: gnomADe:mid
-
allele: G
allele_count: 3088
frequency: '0.5354'
population: gnomADe:mid
-
allele: A
allele_count: 656117
frequency: '0.5901'
population: gnomADe:nfe
-
allele: G
allele_count: 455815
frequency: '0.4099'
population: gnomADe:nfe
-
allele: A
allele_count: 64189
frequency: '0.4218'
population: gnomADg:ALL
-
allele: G
allele_count: 87993
frequency: '0.5782'
population: gnomADg:ALL
-
allele: A
allele_count: 1978
frequency: '0.5704'
population: gnomADg:asj
-
allele: G
allele_count: 1490
frequency: '0.4296'
population: gnomADg:asj
-
allele: A
allele_count: 1827
frequency: '0.3783'
population: gnomADg:sas
-
allele: G
allele_count: 3003
frequency: '0.6217'
population: gnomADg:sas
-
allele: A
allele_count: 5629
frequency: '0.3679'
population: gnomADg:amr
-
allele: G
allele_count: 9673
frequency: '0.6321'
population: gnomADg:amr
-
allele: G
allele_count: 146
frequency: '0.4966'
population: gnomADg:mid
-
allele: A
allele_count: 148
frequency: '0.5034'
population: gnomADg:mid
-
allele: G
allele_count: 28599
frequency: '0.4207'
population: gnomADg:nfe
-
allele: A
allele_count: 39377
frequency: '0.5793'
population: gnomADg:nfe
-
allele: G
allele_count: 4287
frequency: '0.8318'
population: gnomADg:eas
-
allele: A
allele_count: 867
frequency: '0.1682'
population: gnomADg:eas
-
allele: A
allele_count: 945
frequency: '0.447'
population: gnomADg:remaining
-
allele: G
allele_count: 1169
frequency: '0.553'
population: gnomADg:remaining
-
allele: G
allele_count: 34498
frequency: '0.8304'
population: gnomADg:afr
-
allele: A
allele_count: 7044
frequency: '0.1696'
population: gnomADg:afr
-
allele: G
allele_count: 395
frequency: '0.4331'
population: gnomADg:ami
-
allele: A
allele_count: 517
frequency: '0.5669'
population: gnomADg:ami
-
allele: A
allele_count: 5857
frequency: '0.5531'
population: gnomADg:fin
-
allele: G
allele_count: 4733
frequency: '0.4469'
population: gnomADg:fin
-
allele: A
allele_count: 10975
frequency: '0.4867'
population: ALFA:SAMN11605645
-
allele: G
allele_count: 11573
frequency: '0.5133'
population: ALFA:SAMN11605645
-
allele: A
allele_count: 1217
frequency: '0.1749'
population: ALFA:SAMN10492704
-
allele: G
allele_count: 5741
frequency: '0.8251'
population: ALFA:SAMN10492704
-
allele: A
allele_count: 206134
frequency: '0.5451'
population: ALFA:SAMN10492705
-
allele: G
allele_count: 172002
frequency: '0.4549'
population: ALFA:SAMN10492705
-
allele: A
allele_count: 2082
frequency: '0.1842'
population: ALFA:SAMN10492698
-
allele: G
allele_count: 9222
frequency: '0.8158'
population: ALFA:SAMN10492698
-
allele: A
allele_count: 2313
frequency: '0.3196'
population: ALFA:SAMN10492700
-
allele: G
allele_count: 4925
frequency: '0.6804'
population: ALFA:SAMN10492700
-
allele: G
allele_count: 9598
frequency: '0.8194'
population: ALFA:SAMN10492703
-
allele: A
allele_count: 2116
frequency: '0.1806'
population: ALFA:SAMN10492703
-
allele: G
allele_count: 1640
frequency: '0.8333'
population: ALFA:SAMN10492701
-
allele: A
allele_count: 328
frequency: '0.1667'
population: ALFA:SAMN10492701
-
allele: A
allele_count: 889
frequency: '0.1782'
population: ALFA:SAMN10492697
-
allele: G
allele_count: 4101
frequency: '0.8218'
population: ALFA:SAMN10492697
-
allele: A
allele_count: 2008
frequency: '0.3845'
population: ALFA:SAMN10492702
-
allele: G
allele_count: 3214
frequency: '0.6155'
population: ALFA:SAMN10492702
-
allele: A
allele_count: 34
frequency: '0.08293'
population: ALFA:SAMN10492696
-
allele: G
allele_count: 376
frequency: '0.9171'
population: ALFA:SAMN10492696
-
allele: A
allele_count: 620
frequency: '0.4172'
population: ALFA:SAMN10492699
-
allele: G
allele_count: 866
frequency: '0.5828'
population: ALFA:SAMN10492699
-
allele: A
allele_count: 186885
frequency: '0.5786'
population: ALFA:SAMN10492695
-
allele: G
allele_count: 136085
frequency: '0.4214'
population: ALFA:SAMN10492695
-
allele: G
allele_count: 12400
frequency: '0.8176'
population: GEM-J
-
allele: A
allele_count: 2766
frequency: '0.1824'
population: GEM-J
-
allele: A
allele_count: 4938
frequency: '0.5742'
population: ESP6500:EA
-
allele: G
allele_count: 3662
frequency: '0.4258'
population: ESP6500:EA
-
allele: G
allele_count: 3643
frequency: '0.8268'
population: ESP6500:AA
-
allele: A
allele_count: 763
frequency: '0.1732'
population: ESP6500:AA
-
allele: A
frequency: '0.403040584'
population: TOPMed
-
allele: G
frequency: '0.596959416'
population: TOPMed
-
allele: G
allele_count: 163
frequency: '0.848958333333333'
population: 1000GENOMES:phase_3:ACB
-
allele: A
allele_count: 29
frequency: '0.151041666666667'
population: 1000GENOMES:phase_3:ACB
-
allele: G
allele_count: 1194
frequency: '0.903177004538578'
population: 1000GENOMES:phase_3:AFR
-
allele: A
allele_count: 128
frequency: '0.0968229954614221'
population: 1000GENOMES:phase_3:AFR
-
allele: G
allele_count: 3531
frequency: '0.705071884984026'
population: 1000GENOMES:phase_3:ALL
-
allele: A
allele_count: 1477
frequency: '0.294928115015974'
population: 1000GENOMES:phase_3:ALL
-
allele: A
allele_count: 253
frequency: '0.364553314121037'
population: 1000GENOMES:phase_3:AMR
-
allele: G
allele_count: 441
frequency: '0.635446685878963'
population: 1000GENOMES:phase_3:AMR
-
allele: A
allele_count: 28
frequency: '0.229508196721311'
population: 1000GENOMES:phase_3:ASW
-
allele: G
allele_count: 94
frequency: '0.770491803278688'
population: 1000GENOMES:phase_3:ASW
-
allele: G
allele_count: 117
frequency: '0.680232558139535'
population: 1000GENOMES:phase_3:BEB
-
allele: A
allele_count: 55
frequency: '0.319767441860465'
population: 1000GENOMES:phase_3:BEB
-
allele: G
allele_count: 164
frequency: '0.881720430107527'
population: 1000GENOMES:phase_3:CDX
-
allele: A
allele_count: 22
frequency: '0.118279569892473'
population: 1000GENOMES:phase_3:CDX
-
allele: A
allele_count: 117
frequency: '0.590909090909091'
population: 1000GENOMES:phase_3:CEU
-
allele: G
allele_count: 81
frequency: '0.409090909090909'
population: 1000GENOMES:phase_3:CEU
-
allele: A
allele_count: 44
frequency: '0.213592233009709'
population: 1000GENOMES:phase_3:CHB
-
allele: G
allele_count: 162
frequency: '0.786407766990291'
population: 1000GENOMES:phase_3:CHB
-
allele: A
allele_count: 27
frequency: '0.128571428571429'
population: 1000GENOMES:phase_3:CHS
-
allele: G
allele_count: 183
frequency: '0.871428571428571'
population: 1000GENOMES:phase_3:CHS
-
allele: G
allele_count: 103
frequency: '0.547872340425532'
population: 1000GENOMES:phase_3:CLM
-
allele: A
allele_count: 85
frequency: '0.452127659574468'
population: 1000GENOMES:phase_3:CLM
-
allele: A
allele_count: 148
frequency: '0.146825396825397'
population: 1000GENOMES:phase_3:EAS
-
allele: G
allele_count: 860
frequency: '0.853174603174603'
population: 1000GENOMES:phase_3:EAS
-
allele: A
allele_count: 13
frequency: '0.0656565656565657'
population: 1000GENOMES:phase_3:ESN
-
allele: G
allele_count: 185
frequency: '0.934343434343434'
population: 1000GENOMES:phase_3:ESN
-
allele: G
allele_count: 414
frequency: '0.411530815109344'
population: 1000GENOMES:phase_3:EUR
-
allele: A
allele_count: 592
frequency: '0.588469184890656'
population: 1000GENOMES:phase_3:EUR
-
allele: G
allele_count: 85
frequency: '0.429292929292929'
population: 1000GENOMES:phase_3:FIN
-
allele: A
allele_count: 113
frequency: '0.570707070707071'
population: 1000GENOMES:phase_3:FIN
-
allele: A
allele_count: 114
frequency: '0.626373626373626'
population: 1000GENOMES:phase_3:GBR
-
allele: G
allele_count: 68
frequency: '0.373626373626374'
population: 1000GENOMES:phase_3:GBR
-
allele: A
allele_count: 84
frequency: '0.407766990291262'
population: 1000GENOMES:phase_3:GIH
-
allele: G
allele_count: 122
frequency: '0.592233009708738'
population: 1000GENOMES:phase_3:GIH
-
allele: A
allele_count: 15
frequency: '0.0663716814159292'
population: 1000GENOMES:phase_3:GWD
-
allele: G
allele_count: 211
frequency: '0.933628318584071'
population: 1000GENOMES:phase_3:GWD
-
allele: A
allele_count: 123
frequency: '0.574766355140187'
population: 1000GENOMES:phase_3:IBS
-
allele: G
allele_count: 91
frequency: '0.425233644859813'
population: 1000GENOMES:phase_3:IBS
-
allele: G
allele_count: 127
frequency: '0.622549019607843'
population: 1000GENOMES:phase_3:ITU
-
allele: A
allele_count: 77
frequency: '0.377450980392157'
population: 1000GENOMES:phase_3:ITU
-
allele: G
allele_count: 177
frequency: '0.850961538461538'
population: 1000GENOMES:phase_3:JPT
-
allele: A
allele_count: 31
frequency: '0.149038461538462'
population: 1000GENOMES:phase_3:JPT
-
allele: A
allele_count: 24
frequency: '0.121212121212121'
population: 1000GENOMES:phase_3:KHV
-
allele: G
allele_count: 174
frequency: '0.878787878787879'
population: 1000GENOMES:phase_3:KHV
-
allele: G
allele_count: 176
frequency: '0.888888888888889'
population: 1000GENOMES:phase_3:LWK
-
allele: A
allele_count: 22
frequency: '0.111111111111111'
population: 1000GENOMES:phase_3:LWK
-
allele: G
allele_count: 166
frequency: '0.976470588235294'
population: 1000GENOMES:phase_3:MSL
-
allele: A
allele_count: 4
frequency: '0.0235294117647059'
population: 1000GENOMES:phase_3:MSL
-
allele: G
allele_count: 89
frequency: '0.6953125'
population: 1000GENOMES:phase_3:MXL
-
allele: A
allele_count: 39
frequency: '0.3046875'
population: 1000GENOMES:phase_3:MXL
-
allele: G
allele_count: 127
frequency: '0.747058823529412'
population: 1000GENOMES:phase_3:PEL
-
allele: A
allele_count: 43
frequency: '0.252941176470588'
population: 1000GENOMES:phase_3:PEL
-
allele: G
allele_count: 117
frequency: '0.609375'
population: 1000GENOMES:phase_3:PJL
-
allele: A
allele_count: 75
frequency: '0.390625'
population: 1000GENOMES:phase_3:PJL
-
allele: G
allele_count: 122
frequency: '0.586538461538462'
population: 1000GENOMES:phase_3:PUR
-
allele: A
allele_count: 86
frequency: '0.413461538461538'
population: 1000GENOMES:phase_3:PUR
-
allele: G
allele_count: 622
frequency: '0.6359918200409'
population: 1000GENOMES:phase_3:SAS
-
allele: A
allele_count: 356
frequency: '0.3640081799591'
population: 1000GENOMES:phase_3:SAS
-
allele: G
allele_count: 139
frequency: '0.681372549019608'
population: 1000GENOMES:phase_3:STU
-
allele: A
allele_count: 65
frequency: '0.318627450980392'
population: 1000GENOMES:phase_3:STU
-
allele: A
allele_count: 125
frequency: '0.58411214953271'
population: 1000GENOMES:phase_3:TSI
-
allele: G
allele_count: 89
frequency: '0.41588785046729'
population: 1000GENOMES:phase_3:TSI
-
allele: G
allele_count: 199
frequency: '0.921296296296296'
population: 1000GENOMES:phase_3:YRI
-
allele: A
allele_count: 17
frequency: '0.0787037037037037'
population: 1000GENOMES:phase_3:YRI
-
allele: A
allele_count: 20
frequency: '0.108695652173913'
population: GGVP:GWF
-
allele: G
allele_count: 164
frequency: '0.891304347826087'
population: GGVP:GWF
-
allele: A
allele_count: 29
frequency: '0.0668202764976959'
population: GGVP:GWD
-
allele: G
allele_count: 405
frequency: '0.933179723502304'
population: GGVP:GWD
-
allele: G
allele_count: 185
frequency: '0.943877551020408'
population: GGVP:GWW
-
allele: A
allele_count: 11
frequency: '0.0561224489795918'
population: GGVP:GWW
-
allele: A
allele_count: 15
frequency: '0.076530612244898'
population: GGVP:GWJ
-
allele: G
allele_count: 181
frequency: '0.923469387755102'
population: GGVP:GWJ
-
allele: G
allele_count: 935
frequency: '0.925742574257426'
population: GGVP:ALL
-
allele: A
allele_count: 75
frequency: '0.0742574257425743'
population: GGVP:ALL
source: Variants (including SNPs and indels) imported from dbSNP
synonyms:
- '106150.0001'
- PA166153539
- VAR_007096
- NM_000029.3:c.803T>C
- NM_001382817.1:c.803T>C
- NM_001382817.2:c.776T>C
- NP_001371408.1:p.Met259Thr
- NP_001369746.2:p.Met259Thr
- NM_001382817.3:c.776T>C
- NM_000029.4:c.803T>C
- NM_001384479.1:c.776T>C
- RCV000019691
- RCV002259306
- VCV000018068
- RCV000019693
- RCV000405686
- RCV000019692
- RCV000835695
- RCV000242838
- rs17856353
- rs61617185
- rs3182295
- rs4714
- rs386606420
var_class: SNP