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rs104886174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886174(A;A)
Make rs104886174(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606829
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886174
ebirs104886174
HLIrs104886174
Exacrs104886174
Varsomers104886174
Maprs104886174
PheGenIrs104886174
hapmaprs104886174
1000 genomesrs104886174
hgdprs104886174
ensemblrs104886174
gopubmedrs104886174
geneviewrs104886174
scholarrs104886174
googlers104886174
pharmgkbrs104886174
gwascentralrs104886174
openSNPrs104886174
23andMers104886174
23andMe allrs104886174
SNP Nexus

SNPshotrs104886174
SNPdbers104886174
MSV3drs104886174
GWAS Ctlgrs104886174
Max Magnitude0
ClinVar
Risk rs104886174(A;A)
Alt rs104886174(A;A)
Reference rs104886174(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850059G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021388.1,


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