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rs869312750

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312750(A;G)
Make rs869312750(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10224487
GeneS1PR2
is asnp
is mentioned by
dbSNPrs869312750
ebirs869312750
HLIrs869312750
Exacrs869312750
Varsomers869312750
Maprs869312750
PheGenIrs869312750
hapmaprs869312750
1000 genomesrs869312750
hgdprs869312750
ensemblrs869312750
gopubmedrs869312750
geneviewrs869312750
scholarrs869312750
googlers869312750
pharmgkbrs869312750
gwascentralrs869312750
openSNPrs869312750
23andMers869312750
23andMe allrs869312750
SNP Nexus

SNPshotrs869312750
SNPdbers869312750
MSV3drs869312750
GWAS Ctlgrs869312750
Max Magnitude0
ClinVar
Risk rs869312750(G;G)
Alt rs869312750(G;G)
Reference rs869312750(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene S1PR2
CLNDBN Deafness, autosomal recessive 68
Reversed 1
HGVS NC_000019.9:g.10335163T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210070.1,