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rs2303603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2303603(A;A)
Make rs2303603(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position71600724
GeneDYSF
is asnp
is mentioned by
dbSNPrs2303603
dbSNP (old)rs2303603
ClinGenrs2303603
ebirs2303603
HLIrs2303603
Exacrs2303603
Gnomadrs2303603
Varsomers2303603
LitVarrs2303603
Maprs2303603
PheGenIrs2303603
Biobankrs2303603
1000 genomesrs2303603
hgdprs2303603
ensemblrs2303603
gopubmedrs2303603
geneviewrs2303603
scholarrs2303603
googlers2303603
pharmgkbrs2303603
gwascentralrs2303603
openSNPrs2303603
23andMers2303603
23andMe allrs2303603
SNPshotrs2303603
SNPdbers2303603
MSV3drs2303603
GWAS Ctlgrs2303603
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2303603(A;A)
Alt rs2303603(A;A)
Reference Rs2303603(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71827854G>A
CLNSRC
CLNACC RCV000326858.1,