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rs104886147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886147(A;A)
Make rs104886147(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598834
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886147
ebirs104886147
HLIrs104886147
Exacrs104886147
Varsomers104886147
Maprs104886147
PheGenIrs104886147
hapmaprs104886147
1000 genomesrs104886147
hgdprs104886147
ensemblrs104886147
gopubmedrs104886147
geneviewrs104886147
scholarrs104886147
googlers104886147
pharmgkbrs104886147
gwascentralrs104886147
openSNPrs104886147
23andMers104886147
23andMe allrs104886147
SNP Nexus

SNPshotrs104886147
SNPdbers104886147
MSV3drs104886147
GWAS Ctlgrs104886147
Max Magnitude0
ClinVar
Risk rs104886147(A;A)
Alt rs104886147(A;A)
Reference rs104886147(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842064G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021340.1,


OMIM301050
Desc
Variant
Relatedalso

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