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rs587777669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777669(C;T)
Make rs587777669(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position82426523
GeneHNRNPDL
is asnp
is mentioned by
dbSNPrs587777669
ebirs587777669
HLIrs587777669
Exacrs587777669
Varsomers587777669
Maprs587777669
PheGenIrs587777669
hapmaprs587777669
1000 genomesrs587777669
hgdprs587777669
ensemblrs587777669
gopubmedrs587777669
geneviewrs587777669
scholarrs587777669
googlers587777669
pharmgkbrs587777669
gwascentralrs587777669
openSNPrs587777669
23andMers587777669
23andMe allrs587777669
SNP Nexus

SNPshotrs587777669
SNPdbers587777669
MSV3drs587777669
GWAS Ctlgrs587777669
Max Magnitude0
ClinVar
Risk rs587777669(G,T;G,T)
Alt rs587777669(G,T;G,T)
Reference rs587777669(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene HNRNPDL
CLNDBN Limb-girdle muscular dystrophy, type 1G
Reversed 0
HGVS NC_000004.11:g.83347676C>G; NC_000004.11:g.83347676C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133586.2, RCV000133585.2,