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rs267606854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606854(C;T)
Make rs267606854(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position108897592
GeneGPSM2
is asnp
is mentioned by
dbSNPrs267606854
ebirs267606854
HLIrs267606854
Exacrs267606854
Varsomers267606854
Maprs267606854
PheGenIrs267606854
hapmaprs267606854
1000 genomesrs267606854
hgdprs267606854
ensemblrs267606854
gopubmedrs267606854
geneviewrs267606854
scholarrs267606854
googlers267606854
pharmgkbrs267606854
gwascentralrs267606854
openSNPrs267606854
23andMers267606854
23andMe allrs267606854
SNP Nexus

SNPshotrs267606854
SNPdbers267606854
MSV3drs267606854
GWAS Ctlgrs267606854
Max Magnitude0
ClinVar
Risk rs267606854(T;T)
Alt rs267606854(T;T)
Reference rs267606854(C;C)
Significance Pathogenic
Disease Chudley-McCullough syndrome
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome
Reversed 0
HGVS NC_000001.10:g.109440214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001897.2,