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

rs149682171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149682171(C;T)
Make rs149682171(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131522113
GenePOMT1
is asnp
is mentioned by
dbSNPrs149682171
dbSNP (old)rs149682171
ClinGenrs149682171
ebirs149682171
HLIrs149682171
Exacrs149682171
Gnomadrs149682171
Varsomers149682171
Maprs149682171
PheGenIrs149682171
Biobankrs149682171
1000 genomesrs149682171
hgdprs149682171
ensemblrs149682171
gopubmedrs149682171
geneviewrs149682171
scholarrs149682171
googlers149682171
pharmgkbrs149682171
gwascentralrs149682171
openSNPrs149682171
23andMers149682171
23andMe allrs149682171
SNP Nexus

SNPshotrs149682171
SNPdbers149682171
MSV3drs149682171
GWAS Ctlgrs149682171
Max Magnitude0
ClinVar
Risk rs149682171(T;T)
Alt rs149682171(T;T)
Reference Rs149682171(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134397500C>T
CLNSRC
CLNACC RCV000175455.1,