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rs368970223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368970223(C;T)
Make rs368970223(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22255403
GeneANO5
is asnp
is mentioned by
dbSNPrs368970223
dbSNP (classic)rs368970223
ClinGenrs368970223
ebirs368970223
HLIrs368970223
Exacrs368970223
Gnomadrs368970223
Varsomers368970223
LitVarrs368970223
Maprs368970223
PheGenIrs368970223
Biobankrs368970223
1000 genomesrs368970223
hgdprs368970223
ensemblrs368970223
geneviewrs368970223
scholarrs368970223
googlers368970223
pharmgkbrs368970223
gwascentralrs368970223
openSNPrs368970223
23andMers368970223
23andMe allrs368970223
SNPshotrs368970223
SNPdbers368970223
MSV3drs368970223
GWAS Ctlgrs368970223
Max Magnitude0
ClinVar
Risk rs368970223(T;T)
Alt rs368970223(T;T)
Reference Rs368970223(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22276949C>T
CLNSRC
CLNACC RCV000366049.1,