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rs104886432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886432(-;-)
Make rs104886432(-;C)
Make rs104886432(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575910
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886432
ebirs104886432
HLIrs104886432
Exacrs104886432
Varsomers104886432
Maprs104886432
PheGenIrs104886432
hapmaprs104886432
1000 genomesrs104886432
hgdprs104886432
ensemblrs104886432
gopubmedrs104886432
geneviewrs104886432
scholarrs104886432
googlers104886432
pharmgkbrs104886432
gwascentralrs104886432
openSNPrs104886432
23andMers104886432
23andMe allrs104886432
SNP Nexus

SNPshotrs104886432
SNPdbers104886432
MSV3drs104886432
GWAS Ctlgrs104886432
Max Magnitude0
ClinVar
Risk rs104886432(GC,GG;GC,GG)
Alt rs104886432(GC,GG;GC,GG)
Reference rs104886432(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819140dupG
CLNSRC ClinVar
CLNACC RCV000021166.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.