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rs104886165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886165(A;A)
Make rs104886165(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108603036
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886165
ebirs104886165
HLIrs104886165
Exacrs104886165
Varsomers104886165
Maprs104886165
PheGenIrs104886165
hapmaprs104886165
1000 genomesrs104886165
hgdprs104886165
ensemblrs104886165
gopubmedrs104886165
geneviewrs104886165
scholarrs104886165
googlers104886165
pharmgkbrs104886165
gwascentralrs104886165
openSNPrs104886165
23andMers104886165
23andMe allrs104886165
SNP Nexus

SNPshotrs104886165
SNPdbers104886165
MSV3drs104886165
GWAS Ctlgrs104886165
Max Magnitude0
ClinVar
Risk rs104886165(A;A)
Alt rs104886165(A;A)
Reference rs104886165(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846266G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021376.1,


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

OMIM301050
Desc
Variant
Relatedalso