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rs758647756

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758647756(C;T)
Make rs758647756(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50167430
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs758647756
ebirs758647756
HLIrs758647756
Exacrs758647756
Varsomers758647756
Maprs758647756
PheGenIrs758647756
hapmaprs758647756
1000 genomesrs758647756
hgdprs758647756
ensemblrs758647756
gopubmedrs758647756
geneviewrs758647756
scholarrs758647756
googlers758647756
pharmgkbrs758647756
gwascentralrs758647756
openSNPrs758647756
23andMers758647756
23andMe allrs758647756
SNP Nexus

SNPshotrs758647756
SNPdbers758647756
MSV3drs758647756
GWAS Ctlgrs758647756
Max Magnitude0
ClinVar
Risk rs758647756(T;T)
Alt rs758647756(T;T)
Reference rs758647756(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48244791C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201165.1,