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rs560096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs560096(C;C)
Make rs560096(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68911494
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs560096
dbSNP (classic)rs560096
ClinGenrs560096
ebirs560096
HLIrs560096
Exacrs560096
Gnomadrs560096
Varsomers560096
LitVarrs560096
Maprs560096
PheGenIrs560096
Biobankrs560096
1000 genomesrs560096
hgdprs560096
ensemblrs560096
geneviewrs560096
scholarrs560096
googlers560096
pharmgkbrs560096
gwascentralrs560096
openSNPrs560096
23andMers560096
SNPshotrs560096
SNPdbers560096
MSV3drs560096
GWAS Ctlgrs560096
GMAF0.2975
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs560096(C;C)
Alt rs560096(C;C)
Reference Rs560096(T;T)
Significance Non-pathogenic
Disease not specified Spinal muscular atrophy
Variation info
Gene IGHMBP2
CLNDBN not specified Spinal muscular atrophy
Reversed 0
HGVS NC_000011.9:g.68678962T>C
CLNSRC
CLNACC RCV000248264.1, RCV000324070.1,