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rs104886052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886052(A;A)
Make rs104886052(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571458
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886052
ebirs104886052
HLIrs104886052
Exacrs104886052
Varsomers104886052
Maprs104886052
PheGenIrs104886052
hapmaprs104886052
1000 genomesrs104886052
hgdprs104886052
ensemblrs104886052
gopubmedrs104886052
geneviewrs104886052
scholarrs104886052
googlers104886052
pharmgkbrs104886052
gwascentralrs104886052
openSNPrs104886052
23andMers104886052
23andMe allrs104886052
SNP Nexus

SNPshotrs104886052
SNPdbers104886052
MSV3drs104886052
GWAS Ctlgrs104886052
Max Magnitude0
ClinVar
Risk rs104886052(A,C;A,C)
Alt rs104886052(A,C;A,C)
Reference rs104886052(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814688G>A; NC_000023.10:g.107814688G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021147.1, RCV000032049.1,


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

OMIM301050
Desc
Variant
Relatedalso

[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.