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rs104886126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886126(C;C)
Make rs104886126(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597422
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886126
ebirs104886126
HLIrs104886126
Exacrs104886126
Varsomers104886126
Maprs104886126
PheGenIrs104886126
hapmaprs104886126
1000 genomesrs104886126
hgdprs104886126
ensemblrs104886126
gopubmedrs104886126
geneviewrs104886126
scholarrs104886126
googlers104886126
pharmgkbrs104886126
gwascentralrs104886126
openSNPrs104886126
23andMers104886126
23andMe allrs104886126
SNP Nexus

SNPshotrs104886126
SNPdbers104886126
MSV3drs104886126
GWAS Ctlgrs104886126
Max Magnitude0
ClinVar
Risk rs104886126(C;C)
Alt rs104886126(C;C)
Reference rs104886126(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840652G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021309.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso