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

rs104886182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886182(A;A)
Make rs104886182(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614946
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886182
ebirs104886182
HLIrs104886182
Exacrs104886182
Varsomers104886182
Maprs104886182
PheGenIrs104886182
hapmaprs104886182
1000 genomesrs104886182
hgdprs104886182
ensemblrs104886182
gopubmedrs104886182
geneviewrs104886182
scholarrs104886182
googlers104886182
pharmgkbrs104886182
gwascentralrs104886182
openSNPrs104886182
23andMers104886182
23andMe allrs104886182
SNP Nexus

SNPshotrs104886182
SNPdbers104886182
MSV3drs104886182
GWAS Ctlgrs104886182
Max Magnitude0
ClinVar
Risk rs104886182(A;A)
Alt rs104886182(A;A)
Reference rs104886182(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858176G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021399.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso