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rs104886251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886251(A;A)
Make rs104886251(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668373
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886251
ebirs104886251
HLIrs104886251
Exacrs104886251
Varsomers104886251
Maprs104886251
PheGenIrs104886251
hapmaprs104886251
1000 genomesrs104886251
hgdprs104886251
ensemblrs104886251
gopubmedrs104886251
geneviewrs104886251
scholarrs104886251
googlers104886251
pharmgkbrs104886251
gwascentralrs104886251
openSNPrs104886251
23andMers104886251
23andMe allrs104886251
SNP Nexus

SNPshotrs104886251
SNPdbers104886251
MSV3drs104886251
GWAS Ctlgrs104886251
Max Magnitude0
ClinVar
Risk rs104886251(A;A)
Alt rs104886251(A;A)
Reference rs104886251(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911603G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021545.1,


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

OMIM301050
Desc
Variant
Relatedalso