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rs104886415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886415(G;G)
Make rs104886415(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573557
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886415
ebirs104886415
HLIrs104886415
Exacrs104886415
Varsomers104886415
Maprs104886415
PheGenIrs104886415
hapmaprs104886415
1000 genomesrs104886415
hgdprs104886415
ensemblrs104886415
gopubmedrs104886415
geneviewrs104886415
scholarrs104886415
googlers104886415
pharmgkbrs104886415
gwascentralrs104886415
openSNPrs104886415
23andMers104886415
23andMe allrs104886415
SNP Nexus

SNPshotrs104886415
SNPdbers104886415
MSV3drs104886415
GWAS Ctlgrs104886415
Max Magnitude0
ClinVar
Risk rs104886415(G;G)
Alt rs104886415(G;G)
Reference rs104886415(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816787T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021153.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso