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rs528069912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs528069912(-;-)
Make rs528069912(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position108898938
GeneGPSM2
is asnp
is mentioned by
dbSNPrs528069912
dbSNP (classic)rs528069912
ClinGenrs528069912
ebirs528069912
HLIrs528069912
Exacrs528069912
Gnomadrs528069912
Varsomers528069912
LitVarrs528069912
Maprs528069912
PheGenIrs528069912
Biobankrs528069912
1000 genomesrs528069912
hgdprs528069912
ensemblrs528069912
geneviewrs528069912
scholarrs528069912
googlers528069912
pharmgkbrs528069912
gwascentralrs528069912
openSNPrs528069912
23andMers528069912
SNPshotrs528069912
SNPdbers528069912
MSV3drs528069912
GWAS Ctlgrs528069912
Merged fromRs794726687
Max Magnitude0
ClinVar
Risk rs528069912(-;-)
Alt rs528069912(-;-)
Reference Rs528069912(C;C)
Significance Pathogenic
Disease Chudley-McCullough syndrome not provided
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome not provided
Reversed 0
HGVS NC_000001.10:g.109441561delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000029164.4, RCV000223985.1,