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rs398122940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122940(A;G)
Make rs398122940(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219425661
GeneDES
is asnp
is mentioned by
dbSNPrs398122940
ebirs398122940
HLIrs398122940
Exacrs398122940
Varsomers398122940
Maprs398122940
PheGenIrs398122940
hapmaprs398122940
1000 genomesrs398122940
hgdprs398122940
ensemblrs398122940
gopubmedrs398122940
geneviewrs398122940
scholarrs398122940
googlers398122940
pharmgkbrs398122940
gwascentralrs398122940
openSNPrs398122940
23andMers398122940
23andMe allrs398122940
SNP Nexus

SNPshotrs398122940
SNPdbers398122940
MSV3drs398122940
GWAS Ctlgrs398122940
Max Magnitude0
ClinVar
Risk rs398122940(G;G)
Alt rs398122940(G;G)
Reference rs398122940(A;A)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene DES LOC101928568
CLNDBN Muscular dystrophy, limb-girdle, type 2r
Reversed 0
HGVS NC_000002.11:g.220290383A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000050215.33,