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rs28941475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941475(C;T)
Make rs28941475(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132349421
GeneSETX
is asnp
is mentioned by
dbSNPrs28941475
ebirs28941475
HLIrs28941475
Exacrs28941475
Varsomers28941475
Maprs28941475
PheGenIrs28941475
hapmaprs28941475
1000 genomesrs28941475
hgdprs28941475
ensemblrs28941475
gopubmedrs28941475
geneviewrs28941475
scholarrs28941475
googlers28941475
pharmgkbrs28941475
gwascentralrs28941475
openSNPrs28941475
23andMers28941475
23andMe allrs28941475
SNP Nexus

SNPshotrs28941475
SNPdbers28941475
MSV3drs28941475
GWAS Ctlgrs28941475
Max Magnitude0
OMIM608465
DescAMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
Variant0007
Relatedalso
ClinVar
Risk rs28941475(T;T)
Alt rs28941475(T;T)
Reference rs28941475(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 4
Variation info
Gene SETX
CLNDBN Amyotrophic lateral sclerosis type 4
Reversed 1
HGVS NC_000009.11:g.135224808G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002380.5,