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rs587777394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777394(G;T)
Make rs587777394(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position109630740
GeneAMPD2
is asnp
is mentioned by
dbSNPrs587777394
ebirs587777394
HLIrs587777394
Exacrs587777394
Varsomers587777394
Maprs587777394
PheGenIrs587777394
hapmaprs587777394
1000 genomesrs587777394
hgdprs587777394
ensemblrs587777394
gopubmedrs587777394
geneviewrs587777394
scholarrs587777394
googlers587777394
pharmgkbrs587777394
gwascentralrs587777394
openSNPrs587777394
23andMers587777394
23andMe allrs587777394
SNP Nexus

SNPshotrs587777394
SNPdbers587777394
MSV3drs587777394
GWAS Ctlgrs587777394
Max Magnitude0
ClinVar
Risk rs587777394(T;T)
Alt rs587777394(T;T)
Reference rs587777394(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110173362G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119281.4,