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

rs74315283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier for a renal tubular dysgenesis mutation
(G;G) 0 common in clinvar


Make rs74315283(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position230705933
GeneAGT
is asnp
is mentioned by
dbSNPrs74315283
dbSNP (classic)rs74315283
ClinGenrs74315283
ebirs74315283
HLIrs74315283
Exacrs74315283
Gnomadrs74315283
Varsomers74315283
LitVarrs74315283
Maprs74315283
PheGenIrs74315283
Biobankrs74315283
1000 genomesrs74315283
hgdprs74315283
ensemblrs74315283
geneviewrs74315283
scholarrs74315283
googlers74315283
pharmgkbrs74315283
gwascentralrs74315283
openSNPrs74315283
23andMers74315283
SNPshotrs74315283
SNPdbers74315283
MSV3drs74315283
GWAS Ctlgrs74315283
Max Magnitude3

see OMIM 106150.0003

OMIM106150
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315283(A;A)
Alt rs74315283(A;A)
Reference Rs74315283(G;G)
Significance Pathogenic
Disease Renal dysplasia
Variation info
Gene AGT
CLNDBN Renal dysplasia
Reversed 1
HGVS NC_000001.10:g.230841679C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019696.29,