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rs875989815

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs875989815(A;T)
Make rs875989815(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position121447528
GeneGJA1
is asnp
is mentioned by
dbSNPrs875989815
ebirs875989815
HLIrs875989815
Exacrs875989815
Varsomers875989815
Maprs875989815
PheGenIrs875989815
hapmaprs875989815
1000 genomesrs875989815
hgdprs875989815
ensemblrs875989815
gopubmedrs875989815
geneviewrs875989815
scholarrs875989815
googlers875989815
pharmgkbrs875989815
gwascentralrs875989815
openSNPrs875989815
23andMers875989815
23andMe allrs875989815
SNP Nexus

SNPshotrs875989815
SNPdbers875989815
MSV3drs875989815
GWAS Ctlgrs875989815
Max Magnitude0
ClinVar
Risk rs875989815(T;T)
Alt rs875989815(T;T)
Reference rs875989815(A;A)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJA1
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000006.11:g.121768674A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185624.2,