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rs104886198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886198(-;-)
Make rs104886198(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620374
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886198
ebirs104886198
HLIrs104886198
Exacrs104886198
Varsomers104886198
Maprs104886198
PheGenIrs104886198
hapmaprs104886198
1000 genomesrs104886198
hgdprs104886198
ensemblrs104886198
gopubmedrs104886198
geneviewrs104886198
scholarrs104886198
googlers104886198
pharmgkbrs104886198
gwascentralrs104886198
openSNPrs104886198
23andMers104886198
23andMe allrs104886198
SNP Nexus

SNPshotrs104886198
SNPdbers104886198
MSV3drs104886198
GWAS Ctlgrs104886198
Max Magnitude0
ClinVar
Risk rs104886198(;)
Alt rs104886198(;)
Reference rs104886198(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863604delA
CLNSRC ClinVar
CLNACC RCV000021425.1,


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

OMIM301050
Desc
Variant
Relatedalso