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

rs104886131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886131(A;A)
Make rs104886131(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598702
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886131
ebirs104886131
HLIrs104886131
Exacrs104886131
Varsomers104886131
Maprs104886131
PheGenIrs104886131
hapmaprs104886131
1000 genomesrs104886131
hgdprs104886131
ensemblrs104886131
gopubmedrs104886131
geneviewrs104886131
scholarrs104886131
googlers104886131
pharmgkbrs104886131
gwascentralrs104886131
openSNPrs104886131
23andMers104886131
23andMe allrs104886131
SNP Nexus

SNPshotrs104886131
SNPdbers104886131
MSV3drs104886131
GWAS Ctlgrs104886131
Max Magnitude0
ClinVar
Risk rs104886131(A;A)
Alt rs104886131(A;A)
Reference rs104886131(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841932G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021327.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso