Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886372(G;T)
Make rs104886372(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624235
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886372
ebirs104886372
HLIrs104886372
Exacrs104886372
Varsomers104886372
Maprs104886372
PheGenIrs104886372
hapmaprs104886372
1000 genomesrs104886372
hgdprs104886372
ensemblrs104886372
gopubmedrs104886372
geneviewrs104886372
scholarrs104886372
googlers104886372
pharmgkbrs104886372
gwascentralrs104886372
openSNPrs104886372
23andMers104886372
23andMe allrs104886372
SNP Nexus

SNPshotrs104886372
SNPdbers104886372
MSV3drs104886372
GWAS Ctlgrs104886372
Max Magnitude0
ClinVar
Risk rs104886372(T;T)
Alt rs104886372(T;T)
Reference rs104886372(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867465G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021455.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso