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rs727502854

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502854(-;-)
Make rs727502854(-;A)
Make rs727502854(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position131518949
GeneLOC105376301, POMT1
is asnp
is mentioned by
dbSNPrs727502854
ebirs727502854
HLIrs727502854
Exacrs727502854
Varsomers727502854
Maprs727502854
PheGenIrs727502854
hapmaprs727502854
1000 genomesrs727502854
hgdprs727502854
ensemblrs727502854
gopubmedrs727502854
geneviewrs727502854
scholarrs727502854
googlers727502854
pharmgkbrs727502854
gwascentralrs727502854
openSNPrs727502854
23andMers727502854
23andMe allrs727502854
SNP Nexus

SNPshotrs727502854
SNPdbers727502854
MSV3drs727502854
GWAS Ctlgrs727502854
Max Magnitude0
ClinVar
Risk rs727502854(A;A)
Alt rs727502854(A;A)
Reference rs727502854(;)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene POMT1
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.134394336dupA
CLNSRC
CLNACC RCV000150017.1,