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rs121912969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912969(C;C)
Make rs121912969(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position121446879
GeneGJA1
is asnp
is mentioned by
dbSNPrs121912969
ebirs121912969
HLIrs121912969
Exacrs121912969
Varsomers121912969
Maprs121912969
PheGenIrs121912969
hapmaprs121912969
1000 genomesrs121912969
hgdprs121912969
ensemblrs121912969
gopubmedrs121912969
geneviewrs121912969
scholarrs121912969
googlers121912969
pharmgkbrs121912969
gwascentralrs121912969
openSNPrs121912969
23andMers121912969
23andMe allrs121912969
SNP Nexus

SNPshotrs121912969
SNPdbers121912969
MSV3drs121912969
GWAS Ctlgrs121912969
Max Magnitude0
OMIM121014
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912969(C;C)
Alt rs121912969(C;C)
Reference rs121912969(T;T)
Significance Pathogenic
Disease Oculodentodigital dysplasia
Variation info
Gene GJA1
CLNDBN Oculodentodigital dysplasia
Reversed 0
HGVS NC_000006.11:g.121768025T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018516.28,