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

rs104886395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886395(C;C)
Make rs104886395(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571412
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886395
ebirs104886395
HLIrs104886395
Exacrs104886395
Varsomers104886395
Maprs104886395
PheGenIrs104886395
hapmaprs104886395
1000 genomesrs104886395
hgdprs104886395
ensemblrs104886395
gopubmedrs104886395
geneviewrs104886395
scholarrs104886395
googlers104886395
pharmgkbrs104886395
gwascentralrs104886395
openSNPrs104886395
23andMers104886395
23andMe allrs104886395
SNP Nexus

SNPshotrs104886395
SNPdbers104886395
MSV3drs104886395
GWAS Ctlgrs104886395
Max Magnitude0
ClinVar
Risk rs104886395(C;C)
Alt rs104886395(C;C)
Reference rs104886395(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814642G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021142.1,


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

OMIM301050
Desc
Variant
Relatedalso