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

rs201049092

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201049092(A;A)
Make rs201049092(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71553110
GeneDYSF
is asnp
is mentioned by
dbSNPrs201049092
ebirs201049092
HLIrs201049092
Exacrs201049092
Varsomers201049092
Maprs201049092
PheGenIrs201049092
hapmaprs201049092
1000 genomesrs201049092
hgdprs201049092
ensemblrs201049092
gopubmedrs201049092
geneviewrs201049092
scholarrs201049092
googlers201049092
pharmgkbrs201049092
gwascentralrs201049092
openSNPrs201049092
23andMers201049092
23andMe allrs201049092
SNP Nexus

SNPshotrs201049092
SNPdbers201049092
MSV3drs201049092
GWAS Ctlgrs201049092
Max Magnitude0
ClinVar
Risk rs201049092(A;A)
Alt rs201049092(A;A)
Reference rs201049092(G;G)
Significance Probable-Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71780240G>A; NC_000002.11:g.71780240G>C
CLNSRC Quest Diagnostics
CLNACC RCV000176067.1, RCV000201138.1,