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rs727502852

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727502852(C;C)
Make rs727502852(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position46192135
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs727502852
ebirs727502852
HLIrs727502852
Exacrs727502852
Varsomers727502852
Maprs727502852
PheGenIrs727502852
hapmaprs727502852
1000 genomesrs727502852
hgdprs727502852
ensemblrs727502852
gopubmedrs727502852
geneviewrs727502852
scholarrs727502852
googlers727502852
pharmgkbrs727502852
gwascentralrs727502852
openSNPrs727502852
23andMers727502852
23andMe allrs727502852
SNP Nexus

SNPshotrs727502852
SNPdbers727502852
MSV3drs727502852
GWAS Ctlgrs727502852
Max Magnitude0
ClinVar
Risk rs727502852(C;C)
Alt rs727502852(C;C)
Reference rs727502852(T;T)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000001.10:g.46657807A>G
CLNSRC
CLNACC RCV000150002.1,