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rs376104748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376104748(C;C)
Make rs376104748(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position43604408
GeneSTRC
is asnp
is mentioned by
dbSNPrs376104748
dbSNP (classic)rs376104748
ClinGenrs376104748
ebirs376104748
HLIrs376104748
Exacrs376104748
Gnomadrs376104748
Varsomers376104748
LitVarrs376104748
Maprs376104748
PheGenIrs376104748
Biobankrs376104748
1000 genomesrs376104748
hgdprs376104748
ensemblrs376104748
geneviewrs376104748
scholarrs376104748
googlers376104748
pharmgkbrs376104748
gwascentralrs376104748
openSNPrs376104748
23andMers376104748
SNPshotrs376104748
SNPdbers376104748
MSV3drs376104748
GWAS Ctlgrs376104748
Max Magnitude0
ClinVar
Risk rs376104748(A;A) rs376104748(C;C)
Alt rs376104748(A;A) rs376104748(C;C)
Reference Rs376104748(G;G)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness Deafness not provided
Variation info
Gene STRC
CLNDBN Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 16 not provided
Reversed 0
HGVS NC_000015.9:g.43896606G>C
CLNSRC
CLNACC RCV000151950.1, RCV000225023.1, RCV000225080.1, RCV000494575.1,