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rs397515426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515426(C;T)
Make rs397515426(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89651586
GeneCHMP1A
is asnp
is mentioned by
dbSNPrs397515426
dbSNP (old)rs397515426
ClinGenrs397515426
ebirs397515426
HLIrs397515426
Exacrs397515426
Gnomadrs397515426
Varsomers397515426
Maprs397515426
PheGenIrs397515426
Biobankrs397515426
1000 genomesrs397515426
hgdprs397515426
ensemblrs397515426
gopubmedrs397515426
geneviewrs397515426
scholarrs397515426
googlers397515426
pharmgkbrs397515426
gwascentralrs397515426
openSNPrs397515426
23andMers397515426
23andMe allrs397515426
SNP Nexus

SNPshotrs397515426
SNPdbers397515426
MSV3drs397515426
GWAS Ctlgrs397515426
Max Magnitude0
ClinVar
Risk rs397515426(T;T)
Alt rs397515426(T;T)
Reference Rs397515426(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 8 not provided
Variation info
Gene CHMP1A
CLNDBN Pontocerebellar hypoplasia type 8 not provided
Reversed 1
HGVS NC_000016.9:g.89717994G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033059.25, RCV000321930.1,