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

rs104886300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886300(A;A)
Make rs104886300(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694921
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886300
ebirs104886300
HLIrs104886300
Exacrs104886300
Varsomers104886300
Maprs104886300
PheGenIrs104886300
hapmaprs104886300
1000 genomesrs104886300
hgdprs104886300
ensemblrs104886300
gopubmedrs104886300
geneviewrs104886300
scholarrs104886300
googlers104886300
pharmgkbrs104886300
gwascentralrs104886300
openSNPrs104886300
23andMers104886300
23andMe allrs104886300
SNP Nexus

SNPshotrs104886300
SNPdbers104886300
MSV3drs104886300
GWAS Ctlgrs104886300
Max Magnitude0
ClinVar
Risk rs104886300(A;A)
Alt rs104886300(A;A)
Reference rs104886300(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938151G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021652.1,


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

OMIM301050
Desc
Variant
Relatedalso