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rs28937872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28937872(C;T)
Make rs28937872(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20223218
GeneGJB6
is asnp
is mentioned by
dbSNPrs28937872
ebirs28937872
HLIrs28937872
Exacrs28937872
Varsomers28937872
Maprs28937872
PheGenIrs28937872
hapmaprs28937872
1000 genomesrs28937872
hgdprs28937872
ensemblrs28937872
gopubmedrs28937872
geneviewrs28937872
scholarrs28937872
googlers28937872
pharmgkbrs28937872
gwascentralrs28937872
openSNPrs28937872
23andMers28937872
23andMe allrs28937872
SNP Nexus

SNPshotrs28937872
SNPdbers28937872
MSV3drs28937872
GWAS Ctlgrs28937872
Max Magnitude0
OMIM604418
DescECTODERMAL DYSPLASIA, HIDROTIC
Variant0003
Relatedalso


ClinVar
Risk rs28937872(T;T)
Alt rs28937872(T;T)
Reference rs28937872(C;C)
Significance Pathogenic
Disease Hidrotic ectodermal dysplasia syndrome
Variation info
Gene GJB6
CLNDBN Hidrotic ectodermal dysplasia syndrome
Reversed 1
HGVS NC_000013.10:g.20797357G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005883.2,