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rs121918127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918127(C;T)
Make rs121918127(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136429731
GeneINPP5E
is asnp
is mentioned by
dbSNPrs121918127
ebirs121918127
HLIrs121918127
Exacrs121918127
Varsomers121918127
Maprs121918127
PheGenIrs121918127
hapmaprs121918127
1000 genomesrs121918127
hgdprs121918127
ensemblrs121918127
gopubmedrs121918127
geneviewrs121918127
scholarrs121918127
googlers121918127
pharmgkbrs121918127
gwascentralrs121918127
openSNPrs121918127
23andMers121918127
23andMe allrs121918127
SNP Nexus

SNPshotrs121918127
SNPdbers121918127
MSV3drs121918127
GWAS Ctlgrs121918127
Max Magnitude0
OMIM613037
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918127(T;T)
Alt rs121918127(T;T)
Reference rs121918127(C;C)
Significance Pathogenic
Disease MORM syndrome
Variation info
Gene INPP5E
CLNDBN MORM syndrome
Reversed 1
HGVS NC_000009.11:g.139324183G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000427.6,