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rs794729675

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729675(C;T)
Make rs794729675(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position121446978
GeneGJA1
is asnp
is mentioned by
dbSNPrs794729675
ebirs794729675
HLIrs794729675
Exacrs794729675
Varsomers794729675
Maprs794729675
PheGenIrs794729675
hapmaprs794729675
1000 genomesrs794729675
hgdprs794729675
ensemblrs794729675
gopubmedrs794729675
geneviewrs794729675
scholarrs794729675
googlers794729675
pharmgkbrs794729675
gwascentralrs794729675
openSNPrs794729675
23andMers794729675
23andMe allrs794729675
SNP Nexus

SNPshotrs794729675
SNPdbers794729675
MSV3drs794729675
GWAS Ctlgrs794729675
Max Magnitude0
ClinVar
Risk rs794729675(T;T)
Alt rs794729675(T;T)
Reference rs794729675(C;C)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJA1
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000006.11:g.121768124C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185625.2,