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rs104886186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886186(A;A)
Make rs104886186(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620303
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886186
ebirs104886186
HLIrs104886186
Exacrs104886186
Varsomers104886186
Maprs104886186
PheGenIrs104886186
hapmaprs104886186
1000 genomesrs104886186
hgdprs104886186
ensemblrs104886186
gopubmedrs104886186
geneviewrs104886186
scholarrs104886186
googlers104886186
pharmgkbrs104886186
gwascentralrs104886186
openSNPrs104886186
23andMers104886186
23andMe allrs104886186
SNP Nexus

SNPshotrs104886186
SNPdbers104886186
MSV3drs104886186
GWAS Ctlgrs104886186
Max Magnitude0
ClinVar
Risk rs104886186(A;A)
Alt rs104886186(A;A)
Reference rs104886186(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863533G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021415.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

OMIM301050
Desc
Variant
Relatedalso