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rs757888349

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757888349(C;T)
Make rs757888349(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position50167644
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs757888349
ebirs757888349
HLIrs757888349
Exacrs757888349
Varsomers757888349
Maprs757888349
PheGenIrs757888349
hapmaprs757888349
1000 genomesrs757888349
hgdprs757888349
ensemblrs757888349
gopubmedrs757888349
geneviewrs757888349
scholarrs757888349
googlers757888349
pharmgkbrs757888349
gwascentralrs757888349
openSNPrs757888349
23andMers757888349
23andMe allrs757888349
SNP Nexus

SNPshotrs757888349
SNPdbers757888349
MSV3drs757888349
GWAS Ctlgrs757888349
Max Magnitude0
ClinVar
Risk rs757888349(T;T)
Alt rs757888349(T;T)
Reference rs757888349(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245005C>T
CLNSRC
CLNACC RCV000169146.1,