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rs398123006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123006(A;A)
Make rs398123006(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position101631636
GeneGRHL2
is asnp
is mentioned by
dbSNPrs398123006
dbSNP (classic)rs398123006
ClinGenrs398123006
ebirs398123006
HLIrs398123006
Exacrs398123006
Gnomadrs398123006
Varsomers398123006
LitVarrs398123006
Maprs398123006
PheGenIrs398123006
Biobankrs398123006
1000 genomesrs398123006
hgdprs398123006
ensemblrs398123006
geneviewrs398123006
scholarrs398123006
googlers398123006
pharmgkbrs398123006
gwascentralrs398123006
openSNPrs398123006
23andMers398123006
SNPshotrs398123006
SNPdbers398123006
MSV3drs398123006
GWAS Ctlgrs398123006
Max Magnitude0
ClinVar
Risk rs398123006(A;A)
Alt rs398123006(A;A)
Reference Rs398123006(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GRHL2
CLNDBN Deafness, autosomal dominant 28
Reversed 0
HGVS NC_000008.10:g.102643864G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000077792.2,