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rs121918037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918037(C;C)
Make rs121918037(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061951
GeneGP9
is asnp
is mentioned by
dbSNPrs121918037
ebirs121918037
HLIrs121918037
Exacrs121918037
Varsomers121918037
Maprs121918037
PheGenIrs121918037
hapmaprs121918037
1000 genomesrs121918037
hgdprs121918037
ensemblrs121918037
gopubmedrs121918037
geneviewrs121918037
scholarrs121918037
googlers121918037
pharmgkbrs121918037
gwascentralrs121918037
openSNPrs121918037
23andMers121918037
23andMe allrs121918037
SNP Nexus

SNPshotrs121918037
SNPdbers121918037
MSV3drs121918037
GWAS Ctlgrs121918037
Max Magnitude0
OMIM173515
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918037(C,G;C,G)
Alt rs121918037(C,G;C,G)
Reference rs121918037(T;T)
Significance Pathogenic
Disease Bernard-Soulier syndrome type C
Variation info
Gene GP9
CLNDBN Bernard-Soulier syndrome type C
Reversed 0
HGVS NC_000003.11:g.128780794T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014486.18,