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

rs104886151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886151(C;C)
Make rs104886151(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601450
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886151
ebirs104886151
HLIrs104886151
Exacrs104886151
Varsomers104886151
Maprs104886151
PheGenIrs104886151
hapmaprs104886151
1000 genomesrs104886151
hgdprs104886151
ensemblrs104886151
gopubmedrs104886151
geneviewrs104886151
scholarrs104886151
googlers104886151
pharmgkbrs104886151
gwascentralrs104886151
openSNPrs104886151
23andMers104886151
23andMe allrs104886151
SNP Nexus

SNPshotrs104886151
SNPdbers104886151
MSV3drs104886151
GWAS Ctlgrs104886151
Max Magnitude0
ClinVar
Risk rs104886151(C;C)
Alt rs104886151(C;C)
Reference rs104886151(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844680G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021351.1,


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

OMIM301050
Desc
Variant
Relatedalso