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rs202218890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202218890(C;T)
Make rs202218890(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position71569884
GeneDYSF
is asnp
is mentioned by
dbSNPrs202218890
dbSNP (classic)rs202218890
ClinGenrs202218890
ebirs202218890
HLIrs202218890
Exacrs202218890
Gnomadrs202218890
Varsomers202218890
LitVarrs202218890
Maprs202218890
PheGenIrs202218890
Biobankrs202218890
1000 genomesrs202218890
hgdprs202218890
ensemblrs202218890
geneviewrs202218890
scholarrs202218890
googlers202218890
pharmgkbrs202218890
gwascentralrs202218890
openSNPrs202218890
23andMers202218890
23andMe allrs202218890
SNPshotrs202218890
SNPdbers202218890
MSV3drs202218890
GWAS Ctlgrs202218890
Max Magnitude0
ClinVar
Risk rs202218890(T;T)
Alt rs202218890(T;T)
Reference Rs202218890(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71797014C>T
CLNSRC
CLNACC RCV000262612.2,