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rs35193202

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35193202(C;T)
Make rs35193202(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position68929315
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs35193202
ebirs35193202
HLIrs35193202
Exacrs35193202
Varsomers35193202
Maprs35193202
PheGenIrs35193202
hapmaprs35193202
1000 genomesrs35193202
hgdprs35193202
ensemblrs35193202
gopubmedrs35193202
geneviewrs35193202
scholarrs35193202
googlers35193202
pharmgkbrs35193202
gwascentralrs35193202
openSNPrs35193202
23andMers35193202
23andMe allrs35193202
SNP Nexus

SNPshotrs35193202
SNPdbers35193202
MSV3drs35193202
GWAS Ctlgrs35193202
Max Magnitude0
ClinVar
Risk rs35193202(T;T)
Alt rs35193202(T;T)
Reference rs35193202(C;C)
Significance Probable-Pathogenic
Disease Spinal muscular atrophy not specified
Variation info
Gene IGHMBP2
CLNDBN Spinal muscular atrophy, distal, autosomal recessive, 1 not specified
Reversed 0
HGVS NC_000011.9:g.68696783C>A; NC_000011.9:g.68696783C>T
CLNSRC
CLNACC RCV000235087.1, RCV000214533.1,