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

rs104886302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886302(A;A)
Make rs104886302(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695376
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886302
ebirs104886302
HLIrs104886302
Exacrs104886302
Varsomers104886302
Maprs104886302
PheGenIrs104886302
hapmaprs104886302
1000 genomesrs104886302
hgdprs104886302
ensemblrs104886302
gopubmedrs104886302
geneviewrs104886302
scholarrs104886302
googlers104886302
pharmgkbrs104886302
gwascentralrs104886302
openSNPrs104886302
23andMers104886302
23andMe allrs104886302
SNP Nexus

SNPshotrs104886302
SNPdbers104886302
MSV3drs104886302
GWAS Ctlgrs104886302
Max Magnitude0
ClinVar
Risk rs104886302(A;A)
Alt rs104886302(A;A)
Reference rs104886302(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938606G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021659.1,


[PMID 17277342] A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.

OMIM301050
Desc
Variant
Relatedalso