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rs145191476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145191476(A;A)
Make rs145191476(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position108924060
GeneGPSM2
is asnp
is mentioned by
dbSNPrs145191476
ebirs145191476
HLIrs145191476
Exacrs145191476
Varsomers145191476
Maprs145191476
PheGenIrs145191476
hapmaprs145191476
1000 genomesrs145191476
hgdprs145191476
ensemblrs145191476
gopubmedrs145191476
geneviewrs145191476
scholarrs145191476
googlers145191476
pharmgkbrs145191476
gwascentralrs145191476
openSNPrs145191476
23andMers145191476
23andMe allrs145191476
SNP Nexus

SNPshotrs145191476
SNPdbers145191476
MSV3drs145191476
GWAS Ctlgrs145191476
Max Magnitude0
ClinVar
Risk rs145191476(A;A)
Alt rs145191476(A;A)
Reference rs145191476(C;C)
Significance Pathogenic
Disease Chudley-McCullough syndrome
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome
Reversed 0
HGVS NC_000001.10:g.109466682C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029165.4,