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rs104886130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886130(A;A)
Make rs104886130(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597525
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886130
ebirs104886130
HLIrs104886130
Exacrs104886130
Varsomers104886130
Maprs104886130
PheGenIrs104886130
hapmaprs104886130
1000 genomesrs104886130
hgdprs104886130
ensemblrs104886130
gopubmedrs104886130
geneviewrs104886130
scholarrs104886130
googlers104886130
pharmgkbrs104886130
gwascentralrs104886130
openSNPrs104886130
23andMers104886130
23andMe allrs104886130
SNP Nexus

SNPshotrs104886130
SNPdbers104886130
MSV3drs104886130
GWAS Ctlgrs104886130
Max Magnitude0
ClinVar
Risk rs104886130(A;A)
Alt rs104886130(A;A)
Reference rs104886130(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840755G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021320.1,


[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