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rs730882059

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882059(C;G)
Make rs730882059(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position19723410
GeneGP1BB, SEPT5, SEPT5-GP1BB
is asnp
is mentioned by
dbSNPrs730882059
ebirs730882059
HLIrs730882059
Exacrs730882059
Varsomers730882059
Maprs730882059
PheGenIrs730882059
hapmaprs730882059
1000 genomesrs730882059
hgdprs730882059
ensemblrs730882059
gopubmedrs730882059
geneviewrs730882059
scholarrs730882059
googlers730882059
pharmgkbrs730882059
gwascentralrs730882059
openSNPrs730882059
23andMers730882059
23andMe allrs730882059
SNP Nexus

SNPshotrs730882059
SNPdbers730882059
MSV3drs730882059
GWAS Ctlgrs730882059
Max Magnitude0
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs730882059(G;G)
Alt rs730882059(G;G)
Reference Rs730882059(C;C)
Significance Pathogenic
Disease Bernard-Soulier syndrome
Variation info
Gene SEPT5 SEPT5-GP1BB GP1BB
CLNDBN Bernard-Soulier syndrome, type B
Reversed 0
HGVS NC_000022.10:g.19710933C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017416.27,