Have questions? Visit https://www.reddit.com/r/SNPedia

rs797046136

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046136(G;T)
Make rs797046136(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position129848391
GeneEBF3
is asnp
is mentioned by
dbSNPrs797046136
ebirs797046136
HLIrs797046136
Exacrs797046136
Varsomers797046136
Maprs797046136
PheGenIrs797046136
hapmaprs797046136
1000 genomesrs797046136
hgdprs797046136
ensemblrs797046136
gopubmedrs797046136
geneviewrs797046136
scholarrs797046136
googlers797046136
pharmgkbrs797046136
gwascentralrs797046136
openSNPrs797046136
23andMers797046136
23andMe allrs797046136
SNP Nexus

SNPshotrs797046136
SNPdbers797046136
MSV3drs797046136
GWAS Ctlgrs797046136
Max Magnitude0
ClinVar
Risk rs797046136(T;T)
Alt rs797046136(T;T)
Reference rs797046136(G;G)
Significance Pathogenic
Disease Intellectual disability (severe) Muscular hypotonia
Variation info
Gene EBF3
CLNDBN Intellectual disability (severe) Muscular hypotonia
Reversed 1
HGVS NC_000010.10:g.131646655C>A
CLNSRC
CLNACC RCV000193086.2,