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rs104886092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886092(G;T)
Make rs104886092(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108584485
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886092
ebirs104886092
HLIrs104886092
Exacrs104886092
Varsomers104886092
Maprs104886092
PheGenIrs104886092
hapmaprs104886092
1000 genomesrs104886092
hgdprs104886092
ensemblrs104886092
gopubmedrs104886092
geneviewrs104886092
scholarrs104886092
googlers104886092
pharmgkbrs104886092
gwascentralrs104886092
openSNPrs104886092
23andMers104886092
23andMe allrs104886092
SNP Nexus

SNPshotrs104886092
SNPdbers104886092
MSV3drs104886092
GWAS Ctlgrs104886092
Max Magnitude0
ClinVar
Risk rs104886092(T;T)
Alt rs104886092(T;T)
Reference rs104886092(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107827715G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021233.1,


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

OMIM301050
Desc
Variant
Relatedalso