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rs869312749

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312749(C;C)
Make rs869312749(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10224583
GeneS1PR2
is asnp
is mentioned by
dbSNPrs869312749
ebirs869312749
HLIrs869312749
Exacrs869312749
Varsomers869312749
Maprs869312749
PheGenIrs869312749
hapmaprs869312749
1000 genomesrs869312749
hgdprs869312749
ensemblrs869312749
gopubmedrs869312749
geneviewrs869312749
scholarrs869312749
googlers869312749
pharmgkbrs869312749
gwascentralrs869312749
openSNPrs869312749
23andMers869312749
23andMe allrs869312749
SNP Nexus

SNPshotrs869312749
SNPdbers869312749
MSV3drs869312749
GWAS Ctlgrs869312749
Max Magnitude0
ClinVar
Risk rs869312749(C;C)
Alt rs869312749(C;C)
Reference rs869312749(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene S1PR2
CLNDBN Deafness, autosomal recessive 68
Reversed 1
HGVS NC_000019.9:g.10335259C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210066.1,