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

rs104886313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886313(A;A)
Make rs104886313(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597069
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886313
ebirs104886313
HLIrs104886313
Exacrs104886313
Varsomers104886313
Maprs104886313
PheGenIrs104886313
hapmaprs104886313
1000 genomesrs104886313
hgdprs104886313
ensemblrs104886313
gopubmedrs104886313
geneviewrs104886313
scholarrs104886313
googlers104886313
pharmgkbrs104886313
gwascentralrs104886313
openSNPrs104886313
23andMers104886313
23andMe allrs104886313
SNP Nexus

SNPshotrs104886313
SNPdbers104886313
MSV3drs104886313
GWAS Ctlgrs104886313
Max Magnitude0
ClinVar
Risk rs104886313(A;A)
Alt rs104886313(A;A)
Reference rs104886313(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840299G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021306.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.


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