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rs145226920

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145226920(A;A)
Make rs145226920(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position68933864
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs145226920
ebirs145226920
HLIrs145226920
Exacrs145226920
Varsomers145226920
Maprs145226920
PheGenIrs145226920
hapmaprs145226920
1000 genomesrs145226920
hgdprs145226920
ensemblrs145226920
gopubmedrs145226920
geneviewrs145226920
scholarrs145226920
googlers145226920
pharmgkbrs145226920
gwascentralrs145226920
openSNPrs145226920
23andMers145226920
23andMe allrs145226920
SNP Nexus

SNPshotrs145226920
SNPdbers145226920
MSV3drs145226920
GWAS Ctlgrs145226920
Max Magnitude0
ClinVar
Risk rs145226920(A,T;A,T)
Alt rs145226920(A,T;A,T)
Reference rs145226920(C;C)
Significance Pathogenic
Disease not provided Spinal muscular atrophy
Variation info
Gene IGHMBP2
CLNDBN not provided Spinal muscular atrophy, distal, autosomal recessive, 1
Reversed 0
HGVS NC_000011.9:g.68701332C>A
CLNSRC
CLNACC RCV000219401.1, RCV000235082.1,