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rs727502857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502857(G;T)
Make rs727502857(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position77285480
GenePOMT2
is asnp
is mentioned by
dbSNPrs727502857
dbSNP (classic)rs727502857
ClinGenrs727502857
ebirs727502857
HLIrs727502857
Exacrs727502857
Gnomadrs727502857
Varsomers727502857
LitVarrs727502857
Maprs727502857
PheGenIrs727502857
Biobankrs727502857
1000 genomesrs727502857
hgdprs727502857
ensemblrs727502857
geneviewrs727502857
scholarrs727502857
googlers727502857
pharmgkbrs727502857
gwascentralrs727502857
openSNPrs727502857
23andMers727502857
SNPshotrs727502857
SNPdbers727502857
MSV3drs727502857
GWAS Ctlgrs727502857
Max Magnitude0
ClinVar
Risk rs727502857(T;T)
Alt rs727502857(T;T)
Reference Rs727502857(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene POMT2
CLNDBN not provided
Reversed 1
HGVS NC_000014.8:g.77751823C>A
CLNSRC
CLNACC RCV000150024.1,