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rs587777395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777395(A;A)
Make rs587777395(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position109629487
GeneAMPD2
is asnp
is mentioned by
dbSNPrs587777395
ebirs587777395
HLIrs587777395
Exacrs587777395
Varsomers587777395
Maprs587777395
PheGenIrs587777395
hapmaprs587777395
1000 genomesrs587777395
hgdprs587777395
ensemblrs587777395
gopubmedrs587777395
geneviewrs587777395
scholarrs587777395
googlers587777395
pharmgkbrs587777395
gwascentralrs587777395
openSNPrs587777395
23andMers587777395
23andMe allrs587777395
SNP Nexus

SNPshotrs587777395
SNPdbers587777395
MSV3drs587777395
GWAS Ctlgrs587777395
Max Magnitude0
ClinVar
Risk rs587777395(A,T;A,T)
Alt rs587777395(A,T;A,T)
Reference rs587777395(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110172109G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119282.4,