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rs199501657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199501657(A;G)
Make rs199501657(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22221158
GeneANO5
is asnp
is mentioned by
dbSNPrs199501657
dbSNP (classic)rs199501657
ClinGenrs199501657
ebirs199501657
HLIrs199501657
Exacrs199501657
Gnomadrs199501657
Varsomers199501657
LitVarrs199501657
Maprs199501657
PheGenIrs199501657
Biobankrs199501657
1000 genomesrs199501657
hgdprs199501657
ensemblrs199501657
geneviewrs199501657
scholarrs199501657
googlers199501657
pharmgkbrs199501657
gwascentralrs199501657
openSNPrs199501657
23andMers199501657
SNPshotrs199501657
SNPdbers199501657
MSV3drs199501657
GWAS Ctlgrs199501657
Max Magnitude0
ClinVar
Risk rs199501657(G;G)
Alt rs199501657(G;G)
Reference Rs199501657(A;A)
Significance Other
Disease not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22242704A>G
CLNSRC HGMD
CLNACC RCV000082846.4, RCV000292519.1, RCV000386605.1,