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rs786205090

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205090(G;T)
Make rs786205090(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position68937092
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs786205090
ebirs786205090
HLIrs786205090
Exacrs786205090
Varsomers786205090
Maprs786205090
PheGenIrs786205090
hapmaprs786205090
1000 genomesrs786205090
hgdprs786205090
ensemblrs786205090
gopubmedrs786205090
geneviewrs786205090
scholarrs786205090
googlers786205090
pharmgkbrs786205090
gwascentralrs786205090
openSNPrs786205090
23andMers786205090
23andMe allrs786205090
SNP Nexus

SNPshotrs786205090
SNPdbers786205090
MSV3drs786205090
GWAS Ctlgrs786205090
Max Magnitude0
ClinVar
Risk rs786205090(T;T)
Alt rs786205090(T;T)
Reference rs786205090(G;G)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000011.9:g.68704560G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009688.3,