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rs104886166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886166(A;A)
Make rs104886166(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108603045
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886166
ebirs104886166
HLIrs104886166
Exacrs104886166
Varsomers104886166
Maprs104886166
PheGenIrs104886166
hapmaprs104886166
1000 genomesrs104886166
hgdprs104886166
ensemblrs104886166
gopubmedrs104886166
geneviewrs104886166
scholarrs104886166
googlers104886166
pharmgkbrs104886166
gwascentralrs104886166
openSNPrs104886166
23andMers104886166
23andMe allrs104886166
SNP Nexus

SNPshotrs104886166
SNPdbers104886166
MSV3drs104886166
GWAS Ctlgrs104886166
Max Magnitude0
ClinVar
Risk rs104886166(A;A)
Alt rs104886166(A;A)
Reference Rs104886166(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846275G>A
CLNSRC ARUP COL4A5 UniProtKB (protein)
CLNACC RCV000021377.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.