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rs387906829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906829(C;C)
Make rs387906829(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34637268
GeneSIGMAR1
is asnp
is mentioned by
dbSNPrs387906829
dbSNP (classic)rs387906829
ClinGenrs387906829
ebirs387906829
HLIrs387906829
Exacrs387906829
Gnomadrs387906829
Varsomers387906829
LitVarrs387906829
Maprs387906829
PheGenIrs387906829
Biobankrs387906829
1000 genomesrs387906829
hgdprs387906829
ensemblrs387906829
geneviewrs387906829
scholarrs387906829
googlers387906829
pharmgkbrs387906829
gwascentralrs387906829
openSNPrs387906829
23andMers387906829
SNPshotrs387906829
SNPdbers387906829
MSV3drs387906829
GWAS Ctlgrs387906829
Max Magnitude0
ClinVar
Risk rs387906829(C;C)
Alt rs387906829(C;C)
Reference Rs387906829(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 16
Variation info
Gene SIGMAR1
CLNDBN Amyotrophic lateral sclerosis 16, juvenile
Reversed 1
HGVS NC_000009.11:g.34637265C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023162.4,