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rs875989844

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989844(C;G)
Make rs875989844(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position109630343
GeneAMPD2
is asnp
is mentioned by
dbSNPrs875989844
ebirs875989844
HLIrs875989844
Exacrs875989844
Varsomers875989844
Maprs875989844
PheGenIrs875989844
hapmaprs875989844
1000 genomesrs875989844
hgdprs875989844
ensemblrs875989844
gopubmedrs875989844
geneviewrs875989844
scholarrs875989844
googlers875989844
pharmgkbrs875989844
gwascentralrs875989844
openSNPrs875989844
23andMers875989844
23andMe allrs875989844
SNP Nexus

SNPshotrs875989844
SNPdbers875989844
MSV3drs875989844
GWAS Ctlgrs875989844
Max Magnitude0
ClinVar
Risk rs875989844(G;G)
Alt rs875989844(G;G)
Reference rs875989844(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene AMPD2
CLNDBN Pontocerebellar hypoplasia, type 9
Reversed 0
HGVS NC_000001.10:g.110172965C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000211051.2,