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rs104886375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886375(A;A)
Make rs104886375(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568758
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886375
ebirs104886375
HLIrs104886375
Exacrs104886375
Varsomers104886375
Maprs104886375
PheGenIrs104886375
hapmaprs104886375
1000 genomesrs104886375
hgdprs104886375
ensemblrs104886375
gopubmedrs104886375
geneviewrs104886375
scholarrs104886375
googlers104886375
pharmgkbrs104886375
gwascentralrs104886375
openSNPrs104886375
23andMers104886375
23andMe allrs104886375
SNP Nexus

SNPshotrs104886375
SNPdbers104886375
MSV3drs104886375
GWAS Ctlgrs104886375
Max Magnitude0
ClinVar
Risk rs104886375(A;A)
Alt rs104886375(A;A)
Reference rs104886375(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107811988G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021138.1,


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

OMIM301050
Desc
Variant
Relatedalso