Have questions? Visit https://www.reddit.com/r/SNPedia

rs138902646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138902646(C;T)
Make rs138902646(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131523025
GenePOMT1
is asnp
is mentioned by
dbSNPrs138902646
dbSNP (classic)rs138902646
ClinGenrs138902646
ebirs138902646
HLIrs138902646
Exacrs138902646
Gnomadrs138902646
Varsomers138902646
LitVarrs138902646
Maprs138902646
PheGenIrs138902646
Biobankrs138902646
1000 genomesrs138902646
hgdprs138902646
ensemblrs138902646
geneviewrs138902646
scholarrs138902646
googlers138902646
pharmgkbrs138902646
gwascentralrs138902646
openSNPrs138902646
23andMers138902646
SNPshotrs138902646
SNPdbers138902646
MSV3drs138902646
GWAS Ctlgrs138902646
Max Magnitude0
ClinVar
Risk rs138902646(A;A) rs138902646(T;T)
Alt rs138902646(A;A) rs138902646(T;T)
Reference Rs138902646(C;C)
Significance Other
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not specified
Variation info
Gene POMT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 not specified
Reversed 0
HGVS NC_000009.11:g.134398412C>A; NC_000009.11:g.134398412C>T
CLNSRC
CLNACC RCV000176088.2, RCV000176086.3,