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rs267606844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606844(A;A)
Make rs267606844(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position121447074
GeneGJA1
is asnp
is mentioned by
dbSNPrs267606844
ebirs267606844
HLIrs267606844
Exacrs267606844
Varsomers267606844
Maprs267606844
PheGenIrs267606844
hapmaprs267606844
1000 genomesrs267606844
hgdprs267606844
ensemblrs267606844
gopubmedrs267606844
geneviewrs267606844
scholarrs267606844
googlers267606844
pharmgkbrs267606844
gwascentralrs267606844
openSNPrs267606844
23andMers267606844
23andMe allrs267606844
SNP Nexus

SNPshotrs267606844
SNPdbers267606844
MSV3drs267606844
GWAS Ctlgrs267606844
Max Magnitude0
ClinVar
Risk rs267606844(A;A)
Alt rs267606844(A;A)
Reference rs267606844(G;G)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.121768220G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018519.24,