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rs104886086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886086(A;A)
Make rs104886086(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582903
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886086
ebirs104886086
HLIrs104886086
Exacrs104886086
Varsomers104886086
Maprs104886086
PheGenIrs104886086
hapmaprs104886086
1000 genomesrs104886086
hgdprs104886086
ensemblrs104886086
gopubmedrs104886086
geneviewrs104886086
scholarrs104886086
googlers104886086
pharmgkbrs104886086
gwascentralrs104886086
openSNPrs104886086
23andMers104886086
23andMe allrs104886086
SNP Nexus

SNPshotrs104886086
SNPdbers104886086
MSV3drs104886086
GWAS Ctlgrs104886086
Max Magnitude0
ClinVar
Risk rs104886086(A;A)
Alt rs104886086(A;A)
Reference rs104886086(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826133G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021227.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso