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rs398122997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122997(-;-)
Make rs398122997(-;C)
Make rs398122997(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position101644222
GeneGRHL2
is asnp
is mentioned by
dbSNPrs398122997
ebirs398122997
HLIrs398122997
Exacrs398122997
Varsomers398122997
Maprs398122997
PheGenIrs398122997
hapmaprs398122997
1000 genomesrs398122997
hgdprs398122997
ensemblrs398122997
gopubmedrs398122997
geneviewrs398122997
scholarrs398122997
googlers398122997
pharmgkbrs398122997
gwascentralrs398122997
openSNPrs398122997
23andMers398122997
23andMe allrs398122997
SNP Nexus

SNPshotrs398122997
SNPdbers398122997
MSV3drs398122997
GWAS Ctlgrs398122997
Max Magnitude0
ClinVar
Risk rs398122997(C;C)
Alt rs398122997(C;C)
Reference rs398122997(;)
Significance Pathogenic
Disease Deafness
Variation info
Gene GRHL2
CLNDBN Deafness, autosomal dominant 28
Reversed 0
HGVS NC_000008.10:g.102656450dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002279.3,