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

rs797045898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCTAG;CCTAG) 0 common in clinvar
Make rs797045898(CCTAG;TGA)
Make rs797045898(TGA;TGA)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position77283874
GenePOMT2
is asnp
is mentioned by
dbSNPrs797045898
dbSNP (old)rs797045898
ClinGenrs797045898
ebirs797045898
HLIrs797045898
Exacrs797045898
Varsomers797045898
Maprs797045898
PheGenIrs797045898
Biobankrs797045898
1000 genomesrs797045898
hgdprs797045898
ensemblrs797045898
gopubmedrs797045898
geneviewrs797045898
scholarrs797045898
googlers797045898
pharmgkbrs797045898
gwascentralrs797045898
openSNPrs797045898
23andMers797045898
23andMe allrs797045898
SNP Nexus

SNPshotrs797045898
SNPdbers797045898
MSV3drs797045898
GWAS Ctlgrs797045898
Max Magnitude0
ClinVar
Risk rs797045898(TGA;TGA)
Alt rs797045898(TGA;TGA)
Reference Rs797045898(CCTAG;CCTAG)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene POMT2
CLNDBN Muscular dystrophy
Reversed 1
HGVS NC_000014.8:g.77750217_77750221delCTAGGinsTCA
CLNSRC
CLNACC RCV000192561.1,