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rs145127621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145127621(A;A)
Make rs145127621(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22276125
GeneANO5
is asnp
is mentioned by
dbSNPrs145127621
dbSNP (old)rs145127621
ClinGenrs145127621
ebirs145127621
HLIrs145127621
Exacrs145127621
Gnomadrs145127621
Varsomers145127621
Maprs145127621
PheGenIrs145127621
Biobankrs145127621
1000 genomesrs145127621
hgdprs145127621
ensemblrs145127621
gopubmedrs145127621
geneviewrs145127621
scholarrs145127621
googlers145127621
pharmgkbrs145127621
gwascentralrs145127621
openSNPrs145127621
23andMers145127621
23andMe allrs145127621
SNPshotrs145127621
SNPdbers145127621
MSV3drs145127621
GWAS Ctlgrs145127621
Max Magnitude0
ClinVar
Risk rs145127621(A;A) rs145127621(T;T)
Alt rs145127621(A;A) rs145127621(T;T)
Reference Rs145127621(G;G)
Significance Pathogenic
Disease not specified Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN not specified Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22297671G>A; NC_000011.9:g.22297671G>T
CLNSRC
CLNACC RCV000293643.1, RCV000276056.1,