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rs104886057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886057(A;A)
Make rs104886057(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575956
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886057
ebirs104886057
HLIrs104886057
Exacrs104886057
Varsomers104886057
Maprs104886057
PheGenIrs104886057
hapmaprs104886057
1000 genomesrs104886057
hgdprs104886057
ensemblrs104886057
gopubmedrs104886057
geneviewrs104886057
scholarrs104886057
googlers104886057
pharmgkbrs104886057
gwascentralrs104886057
openSNPrs104886057
23andMers104886057
23andMe allrs104886057
SNP Nexus

SNPshotrs104886057
SNPdbers104886057
MSV3drs104886057
GWAS Ctlgrs104886057
Max Magnitude0
ClinVar
Risk rs104886057(A;A)
Alt rs104886057(A;A)
Reference rs104886057(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819186G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021171.1,


[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