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rs104886051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886051(G;T)
Make rs104886051(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571416
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886051
ebirs104886051
HLIrs104886051
Exacrs104886051
Varsomers104886051
Maprs104886051
PheGenIrs104886051
hapmaprs104886051
1000 genomesrs104886051
hgdprs104886051
ensemblrs104886051
gopubmedrs104886051
geneviewrs104886051
scholarrs104886051
googlers104886051
pharmgkbrs104886051
gwascentralrs104886051
openSNPrs104886051
23andMers104886051
23andMe allrs104886051
SNP Nexus

SNPshotrs104886051
SNPdbers104886051
MSV3drs104886051
GWAS Ctlgrs104886051
Max Magnitude0
ClinVar
Risk rs104886051(T;T)
Alt rs104886051(T;T)
Reference rs104886051(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814646G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021146.1,


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

OMIM301050
Desc
Variant
Relatedalso