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rs587777321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777321(C;T)
Make rs587777321(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position155711210
GeneGUCY1A3
is asnp
is mentioned by
dbSNPrs587777321
dbSNP (classic)rs587777321
ClinGenrs587777321
ebirs587777321
HLIrs587777321
Exacrs587777321
Gnomadrs587777321
Varsomers587777321
LitVarrs587777321
Maprs587777321
PheGenIrs587777321
Biobankrs587777321
1000 genomesrs587777321
hgdprs587777321
ensemblrs587777321
geneviewrs587777321
scholarrs587777321
googlers587777321
pharmgkbrs587777321
gwascentralrs587777321
openSNPrs587777321
23andMers587777321
SNPshotrs587777321
SNPdbers587777321
MSV3drs587777321
GWAS Ctlgrs587777321
Max Magnitude0
ClinVar
Risk rs587777321(T;T)
Alt rs587777321(T;T)
Reference Rs587777321(C;C)
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.156632362C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114953.2,