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rs387907010

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907010(C;T)
Make rs387907010(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position108924083
GeneGPSM2
is asnp
is mentioned by
dbSNPrs387907010
ebirs387907010
HLIrs387907010
Exacrs387907010
Varsomers387907010
Maprs387907010
PheGenIrs387907010
hapmaprs387907010
1000 genomesrs387907010
hgdprs387907010
ensemblrs387907010
gopubmedrs387907010
geneviewrs387907010
scholarrs387907010
googlers387907010
pharmgkbrs387907010
gwascentralrs387907010
openSNPrs387907010
23andMers387907010
23andMe allrs387907010
SNP Nexus

SNPshotrs387907010
SNPdbers387907010
MSV3drs387907010
GWAS Ctlgrs387907010
Max Magnitude0
ClinVar
Risk rs387907010(T;T)
Alt rs387907010(T;T)
Reference rs387907010(C;C)
Significance Pathogenic
Disease Chudley-McCullough syndrome
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome
Reversed 0
HGVS NC_000001.10:g.109466705C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023761.3,