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rs747719953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747719953(C;T)
Make rs747719953(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22262137
GeneANO5
is asnp
is mentioned by
dbSNPrs747719953
dbSNP (classic)rs747719953
ClinGenrs747719953
ebirs747719953
HLIrs747719953
Exacrs747719953
Gnomadrs747719953
Varsomers747719953
LitVarrs747719953
Maprs747719953
PheGenIrs747719953
Biobankrs747719953
1000 genomesrs747719953
hgdprs747719953
ensemblrs747719953
geneviewrs747719953
scholarrs747719953
googlers747719953
pharmgkbrs747719953
gwascentralrs747719953
openSNPrs747719953
23andMers747719953
23andMe allrs747719953
SNPshotrs747719953
SNPdbers747719953
MSV3drs747719953
GWAS Ctlgrs747719953
Max Magnitude0
ClinVar
Risk rs747719953(T;T)
Alt rs747719953(T;T)
Reference Rs747719953(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.22283683C>T
CLNSRC
CLNACC RCV000331633.1,