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rs104886361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886361(A;A)
Make rs104886361(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621830
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886361
ebirs104886361
HLIrs104886361
Exacrs104886361
Varsomers104886361
Maprs104886361
PheGenIrs104886361
hapmaprs104886361
1000 genomesrs104886361
hgdprs104886361
ensemblrs104886361
gopubmedrs104886361
geneviewrs104886361
scholarrs104886361
googlers104886361
pharmgkbrs104886361
gwascentralrs104886361
openSNPrs104886361
23andMers104886361
23andMe allrs104886361
SNP Nexus

SNPshotrs104886361
SNPdbers104886361
MSV3drs104886361
GWAS Ctlgrs104886361
Max Magnitude0
ClinVar
Risk rs104886361(A;A)
Alt rs104886361(A;A)
Reference rs104886361(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865060G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021434.1,


OMIM301050
Desc
Variant
Relatedalso

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