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rs104886139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886139(A;A)
Make rs104886139(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597524
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886139
ebirs104886139
HLIrs104886139
Exacrs104886139
Varsomers104886139
Maprs104886139
PheGenIrs104886139
hapmaprs104886139
1000 genomesrs104886139
hgdprs104886139
ensemblrs104886139
gopubmedrs104886139
geneviewrs104886139
scholarrs104886139
googlers104886139
pharmgkbrs104886139
gwascentralrs104886139
openSNPrs104886139
23andMers104886139
23andMe allrs104886139
SNP Nexus

SNPshotrs104886139
SNPdbers104886139
MSV3drs104886139
GWAS Ctlgrs104886139
Max Magnitude0
ClinVar
Risk rs104886139(A;A)
Alt rs104886139(A;A)
Reference rs104886139(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840754G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021319.1,


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

OMIM301050
Desc
Variant
Relatedalso