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rs104886110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886110(A;A)
Make rs104886110(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591160
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886110
ebirs104886110
HLIrs104886110
Exacrs104886110
Varsomers104886110
Maprs104886110
PheGenIrs104886110
hapmaprs104886110
1000 genomesrs104886110
hgdprs104886110
ensemblrs104886110
gopubmedrs104886110
geneviewrs104886110
scholarrs104886110
googlers104886110
pharmgkbrs104886110
gwascentralrs104886110
openSNPrs104886110
23andMers104886110
23andMe allrs104886110
SNP Nexus

SNPshotrs104886110
SNPdbers104886110
MSV3drs104886110
GWAS Ctlgrs104886110
Max Magnitude0
ClinVar
Risk rs104886110(A;A)
Alt rs104886110(A;A)
Reference rs104886110(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834390G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021271.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso