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rs104886159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886159(G;T)
Make rs104886159(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601893
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886159
ebirs104886159
HLIrs104886159
Exacrs104886159
Varsomers104886159
Maprs104886159
PheGenIrs104886159
hapmaprs104886159
1000 genomesrs104886159
hgdprs104886159
ensemblrs104886159
gopubmedrs104886159
geneviewrs104886159
scholarrs104886159
googlers104886159
pharmgkbrs104886159
gwascentralrs104886159
openSNPrs104886159
23andMers104886159
23andMe allrs104886159
SNP Nexus

SNPshotrs104886159
SNPdbers104886159
MSV3drs104886159
GWAS Ctlgrs104886159
Max Magnitude0
ClinVar
Risk rs104886159(T;T)
Alt rs104886159(T;T)
Reference rs104886159(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845123G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021358.1,


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

OMIM301050
Desc
Variant
Relatedalso