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rs869312176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312176(C;C)
Make rs869312176(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position31066093
GeneMIR211, TRPM1
is asnp
is mentioned by
dbSNPrs869312176
dbSNP (classic)rs869312176
ClinGenrs869312176
ebirs869312176
HLIrs869312176
Exacrs869312176
Gnomadrs869312176
Varsomers869312176
LitVarrs869312176
Maprs869312176
PheGenIrs869312176
Biobankrs869312176
1000 genomesrs869312176
hgdprs869312176
ensemblrs869312176
geneviewrs869312176
scholarrs869312176
googlers869312176
pharmgkbrs869312176
gwascentralrs869312176
openSNPrs869312176
23andMers869312176
SNPshotrs869312176
SNPdbers869312176
MSV3drs869312176
GWAS Ctlgrs869312176
Max Magnitude0
ClinVar
Risk rs869312176(C;C)
Alt rs869312176(C;C)
Reference Rs869312176(T;T)
Significance Probable-Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene TRPM1 MIR211
CLNDBN Congenital stationary night blindness, type 1C
Reversed 1
HGVS NC_000015.9:g.31358296A>G
CLNSRC
CLNACC RCV000210285.1,