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rs104886070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886070(A;A)
Make rs104886070(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580543
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886070
ebirs104886070
HLIrs104886070
Exacrs104886070
Varsomers104886070
Maprs104886070
PheGenIrs104886070
hapmaprs104886070
1000 genomesrs104886070
hgdprs104886070
ensemblrs104886070
gopubmedrs104886070
geneviewrs104886070
scholarrs104886070
googlers104886070
pharmgkbrs104886070
gwascentralrs104886070
openSNPrs104886070
23andMers104886070
23andMe allrs104886070
SNP Nexus

SNPshotrs104886070
SNPdbers104886070
MSV3drs104886070
GWAS Ctlgrs104886070
Max Magnitude0
ClinVar
Risk rs104886070(A;A)
Alt rs104886070(A;A)
Reference rs104886070(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823773G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021202.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso