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rs119467003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119467003(A;G)
Make rs119467003(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position89993420
GeneTDP1
is asnp
is mentioned by
dbSNPrs119467003
dbSNP (classic)rs119467003
ClinGenrs119467003
ebirs119467003
HLIrs119467003
Exacrs119467003
Gnomadrs119467003
Varsomers119467003
LitVarrs119467003
Maprs119467003
PheGenIrs119467003
Biobankrs119467003
1000 genomesrs119467003
hgdprs119467003
ensemblrs119467003
geneviewrs119467003
scholarrs119467003
googlers119467003
pharmgkbrs119467003
gwascentralrs119467003
openSNPrs119467003
23andMers119467003
SNPshotrs119467003
SNPdbers119467003
MSV3drs119467003
GWAS Ctlgrs119467003
Max Magnitude0
OMIM607198
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119467003(G;G)
Alt rs119467003(G;G)
Reference Rs119467003(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Variation info
Gene TDP1
CLNDBN Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Reversed 0
HGVS NC_000014.8:g.90459764A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003593.2,