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rs121918038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918038(C;C)
Make rs121918038(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061759
GeneGP9
is asnp
is mentioned by
dbSNPrs121918038
ebirs121918038
HLIrs121918038
Exacrs121918038
Varsomers121918038
Maprs121918038
PheGenIrs121918038
hapmaprs121918038
1000 genomesrs121918038
hgdprs121918038
ensemblrs121918038
gopubmedrs121918038
geneviewrs121918038
scholarrs121918038
googlers121918038
pharmgkbrs121918038
gwascentralrs121918038
openSNPrs121918038
23andMers121918038
23andMe allrs121918038
SNP Nexus

SNPshotrs121918038
SNPdbers121918038
MSV3drs121918038
GWAS Ctlgrs121918038
Max Magnitude0
OMIM173515
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918038(C;C)
Alt rs121918038(C;C)
Reference rs121918038(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.128780602T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014489.24,