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rs796065319

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs796065319(-;-)
Make rs796065319(-;A)
Make rs796065319(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position52038227
GeneSGCB
is asnp
is mentioned by
dbSNPrs796065319
ebirs796065319
HLIrs796065319
Exacrs796065319
Varsomers796065319
Maprs796065319
PheGenIrs796065319
hapmaprs796065319
1000 genomesrs796065319
hgdprs796065319
ensemblrs796065319
gopubmedrs796065319
geneviewrs796065319
scholarrs796065319
googlers796065319
pharmgkbrs796065319
gwascentralrs796065319
openSNPrs796065319
23andMers796065319
23andMe allrs796065319
SNP Nexus

SNPshotrs796065319
SNPdbers796065319
MSV3drs796065319
GWAS Ctlgrs796065319
Max Magnitude0
ClinVar
Risk rs796065319(A;A)
Alt rs796065319(A;A)
Reference rs796065319(;)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 1
HGVS NC_000004.11:g.52904394dupT
CLNSRC
CLNACC RCV000173088.1,