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rs104886363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886363(A;A)
Make rs104886363(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621857
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886363
ebirs104886363
HLIrs104886363
Exacrs104886363
Varsomers104886363
Maprs104886363
PheGenIrs104886363
hapmaprs104886363
1000 genomesrs104886363
hgdprs104886363
ensemblrs104886363
gopubmedrs104886363
geneviewrs104886363
scholarrs104886363
googlers104886363
pharmgkbrs104886363
gwascentralrs104886363
openSNPrs104886363
23andMers104886363
23andMe allrs104886363
SNP Nexus

SNPshotrs104886363
SNPdbers104886363
MSV3drs104886363
GWAS Ctlgrs104886363
Max Magnitude0
ClinVar
Risk rs104886363(A;A)
Alt rs104886363(A;A)
Reference rs104886363(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865087G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021438.1,


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

OMIM301050
Desc
Variant
Relatedalso