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rs398122918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122918(A;A)
Make rs398122918(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89651659
GeneCHMP1A
is asnp
is mentioned by
dbSNPrs398122918
ebirs398122918
HLIrs398122918
Exacrs398122918
Varsomers398122918
Maprs398122918
PheGenIrs398122918
hapmaprs398122918
1000 genomesrs398122918
hgdprs398122918
ensemblrs398122918
gopubmedrs398122918
geneviewrs398122918
scholarrs398122918
googlers398122918
pharmgkbrs398122918
gwascentralrs398122918
openSNPrs398122918
23andMers398122918
23andMe allrs398122918
SNP Nexus

SNPshotrs398122918
SNPdbers398122918
MSV3drs398122918
GWAS Ctlgrs398122918
Max Magnitude0
ClinVar
Risk rs398122918(A,T;A,T)
Alt rs398122918(A,T;A,T)
Reference rs398122918(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 8
Variation info
Gene CHMP1A
CLNDBN Pontocerebellar hypoplasia type 8
Reversed 1
HGVS NC_000016.9:g.89718067C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033060.25,