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rs104886282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886282(C;C)
Make rs104886282(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687641
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886282
ebirs104886282
HLIrs104886282
Exacrs104886282
Varsomers104886282
Maprs104886282
PheGenIrs104886282
hapmaprs104886282
1000 genomesrs104886282
hgdprs104886282
ensemblrs104886282
gopubmedrs104886282
geneviewrs104886282
scholarrs104886282
googlers104886282
pharmgkbrs104886282
gwascentralrs104886282
openSNPrs104886282
23andMers104886282
23andMe allrs104886282
SNP Nexus

SNPshotrs104886282
SNPdbers104886282
MSV3drs104886282
GWAS Ctlgrs104886282
Max Magnitude0
ClinVar
Risk rs104886282(C;C)
Alt rs104886282(C;C)
Reference rs104886282(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930871G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021618.1,


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

OMIM301050
Desc
Variant
Relatedalso