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rs104886190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886190(C;C)
Make rs104886190(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620363
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886190
ebirs104886190
HLIrs104886190
Exacrs104886190
Varsomers104886190
Maprs104886190
PheGenIrs104886190
hapmaprs104886190
1000 genomesrs104886190
hgdprs104886190
ensemblrs104886190
gopubmedrs104886190
geneviewrs104886190
scholarrs104886190
googlers104886190
pharmgkbrs104886190
gwascentralrs104886190
openSNPrs104886190
23andMers104886190
23andMe allrs104886190
SNP Nexus

SNPshotrs104886190
SNPdbers104886190
MSV3drs104886190
GWAS Ctlgrs104886190
Max Magnitude0
ClinVar
Risk rs104886190(C;C)
Alt rs104886190(C;C)
Reference rs104886190(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863593G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021423.1,


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

OMIM301050
Desc
Variant
Relatedalso