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rs150877497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150877497(A;A)
Make rs150877497(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position71570680
GeneDYSF
is asnp
is mentioned by
dbSNPrs150877497
dbSNP (classic)rs150877497
ClinGenrs150877497
ebirs150877497
HLIrs150877497
Exacrs150877497
Gnomadrs150877497
Varsomers150877497
LitVarrs150877497
Maprs150877497
PheGenIrs150877497
Biobankrs150877497
1000 genomesrs150877497
hgdprs150877497
ensemblrs150877497
geneviewrs150877497
scholarrs150877497
googlers150877497
pharmgkbrs150877497
gwascentralrs150877497
openSNPrs150877497
23andMers150877497
SNPshotrs150877497
SNPdbers150877497
MSV3drs150877497
GWAS Ctlgrs150877497
Max Magnitude0
ClinVar
Risk rs150877497(A;A)
Alt rs150877497(A;A)
Reference Rs150877497(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B not provided
Reversed 0
HGVS NC_000002.11:g.71797810G>A
CLNSRC
CLNACC RCV000229450.1, RCV000493116.1,