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rs104886189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886189(A;A)
Make rs104886189(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620354
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886189
ebirs104886189
HLIrs104886189
Exacrs104886189
Varsomers104886189
Maprs104886189
PheGenIrs104886189
hapmaprs104886189
1000 genomesrs104886189
hgdprs104886189
ensemblrs104886189
gopubmedrs104886189
geneviewrs104886189
scholarrs104886189
googlers104886189
pharmgkbrs104886189
gwascentralrs104886189
openSNPrs104886189
23andMers104886189
23andMe allrs104886189
SNP Nexus

SNPshotrs104886189
SNPdbers104886189
MSV3drs104886189
GWAS Ctlgrs104886189
Max Magnitude0
ClinVar
Risk rs104886189(A;A)
Alt rs104886189(A;A)
Reference rs104886189(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863584G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021422.1,


OMIM301050
Desc
Variant
Relatedalso

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