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rs780201679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
(T;T) 0 common in clinvar
Make rs780201679(-;GGAC)
Make rs780201679(GGAC;GGAC)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22270405
GeneANO5
is asnp
is mentioned by
dbSNPrs780201679
dbSNP (classic)rs780201679
ClinGenrs780201679
ebirs780201679
HLIrs780201679
Exacrs780201679
Gnomadrs780201679
Varsomers780201679
LitVarrs780201679
Maprs780201679
PheGenIrs780201679
Biobankrs780201679
1000 genomesrs780201679
hgdprs780201679
ensemblrs780201679
geneviewrs780201679
scholarrs780201679
googlers780201679
pharmgkbrs780201679
gwascentralrs780201679
openSNPrs780201679
23andMers780201679
SNPshotrs780201679
SNPdbers780201679
MSV3drs780201679
GWAS Ctlgrs780201679
Max Magnitude0
ClinVar
Risk rs780201679(GGAC;GGAC) Rs780201679(T;T)
Alt rs780201679(GGAC;GGAC) Rs780201679(T;T)
Reference Rs780201679(-;-)
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.22291951dupT
CLNSRC
CLNACC RCV000336990.1,