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rs786205089

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205089(-;-)
Make rs786205089(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position68911567
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs786205089
ebirs786205089
HLIrs786205089
Exacrs786205089
Varsomers786205089
Maprs786205089
PheGenIrs786205089
hapmaprs786205089
1000 genomesrs786205089
hgdprs786205089
ensemblrs786205089
gopubmedrs786205089
geneviewrs786205089
scholarrs786205089
googlers786205089
pharmgkbrs786205089
gwascentralrs786205089
openSNPrs786205089
23andMers786205089
23andMe allrs786205089
SNP Nexus

SNPshotrs786205089
SNPdbers786205089
MSV3drs786205089
GWAS Ctlgrs786205089
Max Magnitude0
ClinVar
Risk rs786205089(;)
Alt rs786205089(;)
Reference rs786205089(T;T)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene IGHMBP2
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000011.9:g.68679035delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009686.3,