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rs483352870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352870(C;C)
Make rs483352870(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position108677634
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs483352870
ebirs483352870
HLIrs483352870
Exacrs483352870
Varsomers483352870
Maprs483352870
PheGenIrs483352870
hapmaprs483352870
1000 genomesrs483352870
hgdprs483352870
ensemblrs483352870
gopubmedrs483352870
geneviewrs483352870
scholarrs483352870
googlers483352870
pharmgkbrs483352870
gwascentralrs483352870
openSNPrs483352870
23andMers483352870
23andMe allrs483352870
SNP Nexus

SNPshotrs483352870
SNPdbers483352870
MSV3drs483352870
GWAS Ctlgrs483352870
Max Magnitude0
ClinVar
Risk rs483352870(C;C)
Alt rs483352870(C;C)
Reference rs483352870(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920864G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021569.1,