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rs104886337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886337(G;T)
Make rs104886337(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597569
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886337
ClinGenrs104886337
ebirs104886337
HLIrs104886337
Exacrs104886337
Varsomers104886337
Maprs104886337
PheGenIrs104886337
hapmaprs104886337
1000 genomesrs104886337
hgdprs104886337
ensemblrs104886337
gopubmedrs104886337
geneviewrs104886337
scholarrs104886337
googlers104886337
pharmgkbrs104886337
gwascentralrs104886337
openSNPrs104886337
23andMers104886337
23andMe allrs104886337
SNP Nexus

SNPshotrs104886337
SNPdbers104886337
MSV3drs104886337
GWAS Ctlgrs104886337
Max Magnitude0
ClinVar
Risk rs104886337(T;T)
Alt rs104886337(T;T)
Reference Rs104886337(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840799G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021324.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso