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rs4879809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4879809(C;C)
Make rs4879809(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position34635601
GeneSIGMAR1
is asnp
is mentioned by
dbSNPrs4879809
dbSNP (classic)rs4879809
ClinGenrs4879809
ebirs4879809
HLIrs4879809
Exacrs4879809
Gnomadrs4879809
Varsomers4879809
LitVarrs4879809
Maprs4879809
PheGenIrs4879809
Biobankrs4879809
1000 genomesrs4879809
hgdprs4879809
ensemblrs4879809
geneviewrs4879809
scholarrs4879809
googlers4879809
pharmgkbrs4879809
gwascentralrs4879809
openSNPrs4879809
23andMers4879809
SNPshotrs4879809
SNPdbers4879809
MSV3drs4879809
GWAS Ctlgrs4879809
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 26205306] In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia

ClinVar
Risk rs4879809(A;A) rs4879809(C;C) rs4879809(G;G)
Alt rs4879809(A;A) rs4879809(C;C) rs4879809(G;G)
Reference Rs4879809(T;T)
Significance Unknown
Disease Amyotrophic lateral sclerosis 16
Variation info
Gene SIGMAR1
CLNDBN Amyotrophic lateral sclerosis 16, juvenile
Reversed 0
HGVS NC_000009.11:g.34635598T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190342.3,