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rs587777392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777392(C;C)
Make rs587777392(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position109630697
GeneAMPD2
is asnp
is mentioned by
dbSNPrs587777392
ebirs587777392
HLIrs587777392
Exacrs587777392
Varsomers587777392
Maprs587777392
PheGenIrs587777392
hapmaprs587777392
1000 genomesrs587777392
hgdprs587777392
ensemblrs587777392
gopubmedrs587777392
geneviewrs587777392
scholarrs587777392
googlers587777392
pharmgkbrs587777392
gwascentralrs587777392
openSNPrs587777392
23andMers587777392
23andMe allrs587777392
SNP Nexus

SNPshotrs587777392
SNPdbers587777392
MSV3drs587777392
GWAS Ctlgrs587777392
Max Magnitude0
ClinVar
Risk rs587777392(C;C)
Alt rs587777392(C;C)
Reference rs587777392(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110173319G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119279.4,