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rs74315430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315430(A;A)
Make rs74315430(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position64048601
GeneSOX18
is asnp
is mentioned by
dbSNPrs74315430
ebirs74315430
HLIrs74315430
Exacrs74315430
Varsomers74315430
Maprs74315430
PheGenIrs74315430
hapmaprs74315430
1000 genomesrs74315430
hgdprs74315430
ensemblrs74315430
gopubmedrs74315430
geneviewrs74315430
scholarrs74315430
googlers74315430
pharmgkbrs74315430
gwascentralrs74315430
openSNPrs74315430
23andMers74315430
23andMe allrs74315430
SNP Nexus

SNPshotrs74315430
SNPdbers74315430
MSV3drs74315430
GWAS Ctlgrs74315430
Max Magnitude0
OMIM601618
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315430(A;A)
Alt rs74315430(A;A)
Reference rs74315430(C;C)
Significance Pathogenic
Disease Glomerulonephritis with sparse hair and telangiectases
Variation info
Gene SOX18
CLNDBN Glomerulonephritis with sparse hair and telangiectases
Reversed 1
HGVS NC_000020.10:g.62679954G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008466.3,