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rs104886323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886323(A;A)
Make rs104886323(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108559063
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886323
ebirs104886323
HLIrs104886323
Exacrs104886323
Varsomers104886323
Maprs104886323
PheGenIrs104886323
hapmaprs104886323
1000 genomesrs104886323
hgdprs104886323
ensemblrs104886323
gopubmedrs104886323
geneviewrs104886323
scholarrs104886323
googlers104886323
pharmgkbrs104886323
gwascentralrs104886323
openSNPrs104886323
23andMers104886323
23andMe allrs104886323
SNP Nexus

SNPshotrs104886323
SNPdbers104886323
MSV3drs104886323
GWAS Ctlgrs104886323
Max Magnitude0
ClinVar
Risk rs104886323(A;A)
Alt rs104886323(A;A)
Reference rs104886323(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107802293G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021119.1,


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

OMIM301050
Desc
Variant
Relatedalso