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rs587777320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777320(A;A)
Make rs587777320(A;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position155711252
GeneGUCY1A3
is asnp
is mentioned by
dbSNPrs587777320
ebirs587777320
HLIrs587777320
Exacrs587777320
Varsomers587777320
Maprs587777320
PheGenIrs587777320
hapmaprs587777320
1000 genomesrs587777320
hgdprs587777320
ensemblrs587777320
gopubmedrs587777320
geneviewrs587777320
scholarrs587777320
googlers587777320
pharmgkbrs587777320
gwascentralrs587777320
openSNPrs587777320
23andMers587777320
23andMe allrs587777320
SNP Nexus

SNPshotrs587777320
SNPdbers587777320
MSV3drs587777320
GWAS Ctlgrs587777320
Max Magnitude0
ClinVar
Risk rs587777320(A,T;A,T)
Alt rs587777320(A,T;A,T)
Reference rs587777320(G;G)
Significance Pathogenic
Disease Moyamoya disease 6 with achalasia
Variation info
Gene GUCY1A3
CLNDBN Moyamoya disease 6 with achalasia
Reversed 0
HGVS NC_000004.11:g.156632404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114952.2,