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rs104886146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886146(A;A)
Make rs104886146(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598819
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886146
ebirs104886146
HLIrs104886146
Exacrs104886146
Varsomers104886146
Maprs104886146
PheGenIrs104886146
hapmaprs104886146
1000 genomesrs104886146
hgdprs104886146
ensemblrs104886146
gopubmedrs104886146
geneviewrs104886146
scholarrs104886146
googlers104886146
pharmgkbrs104886146
gwascentralrs104886146
openSNPrs104886146
23andMers104886146
23andMe allrs104886146
SNP Nexus

SNPshotrs104886146
SNPdbers104886146
MSV3drs104886146
GWAS Ctlgrs104886146
Max Magnitude0
ClinVar
Risk rs104886146(A;A)
Alt rs104886146(A;A)
Reference rs104886146(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842049G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021338.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso