Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231453(C;T)
Make rs606231453(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position1535616
GeneTMEM240
is asnp
is mentioned by
dbSNPrs606231453
dbSNP (classic)rs606231453
ClinGenrs606231453
ebirs606231453
HLIrs606231453
Exacrs606231453
Gnomadrs606231453
Varsomers606231453
LitVarrs606231453
Maprs606231453
PheGenIrs606231453
Biobankrs606231453
1000 genomesrs606231453
hgdprs606231453
ensemblrs606231453
geneviewrs606231453
scholarrs606231453
googlers606231453
pharmgkbrs606231453
gwascentralrs606231453
openSNPrs606231453
23andMers606231453
SNPshotrs606231453
SNPdbers606231453
MSV3drs606231453
GWAS Ctlgrs606231453
Max Magnitude0
ClinVar
Risk rs606231453(T;T)
Alt rs606231453(T;T)
Reference Rs606231453(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 21
Variation info
Gene TMEM240
CLNDBN Spinocerebellar ataxia 21
Reversed 1
HGVS NC_000001.10:g.1470996G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148346.3,