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rs104886324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886324(G;G)
Make rs104886324(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586749
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886324
ebirs104886324
HLIrs104886324
Exacrs104886324
Varsomers104886324
Maprs104886324
PheGenIrs104886324
hapmaprs104886324
1000 genomesrs104886324
hgdprs104886324
ensemblrs104886324
gopubmedrs104886324
geneviewrs104886324
scholarrs104886324
googlers104886324
pharmgkbrs104886324
gwascentralrs104886324
openSNPrs104886324
23andMers104886324
23andMe allrs104886324
SNP Nexus

SNPshotrs104886324
SNPdbers104886324
MSV3drs104886324
GWAS Ctlgrs104886324
Max Magnitude0
ClinVar
Risk rs104886324(G;G)
Alt rs104886324(G;G)
Reference rs104886324(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829979T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021251.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso