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rs199806879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199806879(C;T)
Make rs199806879(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position42408227
GeneCAPN3
is asnp
is mentioned by
dbSNPrs199806879
dbSNP (old)rs199806879
ClinGenrs199806879
ebirs199806879
HLIrs199806879
Exacrs199806879
Gnomadrs199806879
Varsomers199806879
Maprs199806879
PheGenIrs199806879
Biobankrs199806879
1000 genomesrs199806879
hgdprs199806879
ensemblrs199806879
gopubmedrs199806879
geneviewrs199806879
scholarrs199806879
googlers199806879
pharmgkbrs199806879
gwascentralrs199806879
openSNPrs199806879
23andMers199806879
23andMe allrs199806879
SNPshotrs199806879
SNPdbers199806879
MSV3drs199806879
GWAS Ctlgrs199806879
Max Magnitude0
ClinVar
Risk rs199806879(T;T)
Alt rs199806879(T;T)
Reference Rs199806879(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42700425C>T
CLNSRC
CLNACC RCV000354372.1,