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rs369607332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs369607332(A;A)
Make rs369607332(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71570679
GeneDYSF
is asnp
is mentioned by
dbSNPrs369607332
dbSNP (classic)rs369607332
ClinGenrs369607332
ebirs369607332
HLIrs369607332
Exacrs369607332
Gnomadrs369607332
Varsomers369607332
LitVarrs369607332
Maprs369607332
PheGenIrs369607332
Biobankrs369607332
1000 genomesrs369607332
hgdprs369607332
ensemblrs369607332
geneviewrs369607332
scholarrs369607332
googlers369607332
pharmgkbrs369607332
gwascentralrs369607332
openSNPrs369607332
23andMers369607332
SNPshotrs369607332
SNPdbers369607332
MSV3drs369607332
GWAS Ctlgrs369607332
Max Magnitude0
ClinVar
Risk rs369607332(A;A) rs369607332(T;T)
Alt rs369607332(A;A) rs369607332(T;T)
Reference Rs369607332(C;C)
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.71797809C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201098.1, RCV000255805.1,