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rs104886246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886246(C;C)
Make rs104886246(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668345
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886246
ebirs104886246
HLIrs104886246
Exacrs104886246
Varsomers104886246
Maprs104886246
PheGenIrs104886246
hapmaprs104886246
1000 genomesrs104886246
hgdprs104886246
ensemblrs104886246
gopubmedrs104886246
geneviewrs104886246
scholarrs104886246
googlers104886246
pharmgkbrs104886246
gwascentralrs104886246
openSNPrs104886246
23andMers104886246
23andMe allrs104886246
SNP Nexus

SNPshotrs104886246
SNPdbers104886246
MSV3drs104886246
GWAS Ctlgrs104886246
Max Magnitude0
ClinVar
Risk rs104886246(C;C)
Alt rs104886246(C;C)
Reference rs104886246(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911575G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021540.1,


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

OMIM301050
Desc
Variant
Relatedalso