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rs587777393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777393(A;A)
Make rs587777393(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position109627453
GeneAMPD2
is asnp
is mentioned by
dbSNPrs587777393
ebirs587777393
HLIrs587777393
Exacrs587777393
Varsomers587777393
Maprs587777393
PheGenIrs587777393
hapmaprs587777393
1000 genomesrs587777393
hgdprs587777393
ensemblrs587777393
gopubmedrs587777393
geneviewrs587777393
scholarrs587777393
googlers587777393
pharmgkbrs587777393
gwascentralrs587777393
openSNPrs587777393
23andMers587777393
23andMe allrs587777393
SNP Nexus

SNPshotrs587777393
SNPdbers587777393
MSV3drs587777393
GWAS Ctlgrs587777393
Max Magnitude0
ClinVar
Risk rs587777393(A;A)
Alt rs587777393(A;A)
Reference rs587777393(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110170075C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119280.4,