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rs104886085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886085(C;C)
Make rs104886085(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582902
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886085
ebirs104886085
HLIrs104886085
Exacrs104886085
Varsomers104886085
Maprs104886085
PheGenIrs104886085
hapmaprs104886085
1000 genomesrs104886085
hgdprs104886085
ensemblrs104886085
gopubmedrs104886085
geneviewrs104886085
scholarrs104886085
googlers104886085
pharmgkbrs104886085
gwascentralrs104886085
openSNPrs104886085
23andMers104886085
23andMe allrs104886085
SNP Nexus

SNPshotrs104886085
SNPdbers104886085
MSV3drs104886085
GWAS Ctlgrs104886085
Max Magnitude0
ClinVar
Risk rs104886085(C;C)
Alt rs104886085(C;C)
Reference rs104886085(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826132G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021226.1,


[PMID 10684360] Mutational analysis of COL4A5 gene in Korean Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso