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rs587777391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777391(-;-)
Make rs587777391(-;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position109628727
GeneAMPD2
is asnp
is mentioned by
dbSNPrs587777391
ebirs587777391
HLIrs587777391
Exacrs587777391
Varsomers587777391
Maprs587777391
PheGenIrs587777391
hapmaprs587777391
1000 genomesrs587777391
hgdprs587777391
ensemblrs587777391
gopubmedrs587777391
geneviewrs587777391
scholarrs587777391
googlers587777391
pharmgkbrs587777391
gwascentralrs587777391
openSNPrs587777391
23andMers587777391
23andMe allrs587777391
SNP Nexus

SNPshotrs587777391
SNPdbers587777391
MSV3drs587777391
GWAS Ctlgrs587777391
Max Magnitude0
ClinVar
Risk rs587777391(;)
Alt rs587777391(;)
Reference rs587777391(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110171349delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000119278.3,