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

rs74374973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs74374973(C;T)
Make rs74374973(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189973
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs74374973
ebirs74374973
HLIrs74374973
Exacrs74374973
Varsomers74374973
Maprs74374973
PheGenIrs74374973
hapmaprs74374973
1000 genomesrs74374973
hgdprs74374973
ensemblrs74374973
gopubmedrs74374973
geneviewrs74374973
scholarrs74374973
googlers74374973
pharmgkbrs74374973
gwascentralrs74374973
openSNPrs74374973
23andMers74374973
23andMe allrs74374973
SNP Nexus

SNPshotrs74374973
SNPdbers74374973
MSV3drs74374973
GWAS Ctlgrs74374973
GMAF0.007346
Max Magnitude0
OMIM606822
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74374973(T;T)
Alt rs74374973(T;T)
Reference rs74374973(C;C)
Significance Other
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not specified
Variation info
Gene POMGNT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 not specified
Reversed 0
HGVS NC_000001.10:g.46655645C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004204.2, RCV000081801.8,