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rs267606900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606900(A;G)
Make rs267606900(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position30313926
GeneMTPAP
is asnp
is mentioned by
dbSNPrs267606900
dbSNP (classic)rs267606900
ClinGenrs267606900
ebirs267606900
HLIrs267606900
Exacrs267606900
Gnomadrs267606900
Varsomers267606900
LitVarrs267606900
Maprs267606900
PheGenIrs267606900
Biobankrs267606900
1000 genomesrs267606900
hgdprs267606900
ensemblrs267606900
geneviewrs267606900
scholarrs267606900
googlers267606900
pharmgkbrs267606900
gwascentralrs267606900
openSNPrs267606900
23andMers267606900
SNPshotrs267606900
SNPdbers267606900
MSV3drs267606900
GWAS Ctlgrs267606900
Max Magnitude0
ClinVar
Risk rs267606900(G;G)
Alt rs267606900(G;G)
Reference Rs267606900(A;A)
Significance Pathogenic
Disease Ataxia
Variation info
Gene MTPAP
CLNDBN Ataxia, spastic, 4, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.30602855T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000002.3,