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rs104886437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886437(A;A)
Make rs104886437(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578075
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886437
ebirs104886437
HLIrs104886437
Exacrs104886437
Varsomers104886437
Maprs104886437
PheGenIrs104886437
hapmaprs104886437
1000 genomesrs104886437
hgdprs104886437
ensemblrs104886437
gopubmedrs104886437
geneviewrs104886437
scholarrs104886437
googlers104886437
pharmgkbrs104886437
gwascentralrs104886437
openSNPrs104886437
23andMers104886437
23andMe allrs104886437
SNP Nexus

SNPshotrs104886437
SNPdbers104886437
MSV3drs104886437
GWAS Ctlgrs104886437
Max Magnitude0
ClinVar
Risk rs104886437(A;A)
Alt rs104886437(A;A)
Reference rs104886437(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821305C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021184.1,


OMIM301050
Desc
Variant
Relatedalso

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