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rs104886365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886365(A;A)
Make rs104886365(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108563931
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886365
ebirs104886365
HLIrs104886365
Exacrs104886365
Varsomers104886365
Maprs104886365
PheGenIrs104886365
hapmaprs104886365
1000 genomesrs104886365
hgdprs104886365
ensemblrs104886365
gopubmedrs104886365
geneviewrs104886365
scholarrs104886365
googlers104886365
pharmgkbrs104886365
gwascentralrs104886365
openSNPrs104886365
23andMers104886365
23andMe allrs104886365
SNP Nexus

SNPshotrs104886365
SNPdbers104886365
MSV3drs104886365
GWAS Ctlgrs104886365
Max Magnitude0
ClinVar
Risk rs104886365(A;A)
Alt rs104886365(A;A)
Reference rs104886365(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107807161G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021133.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso