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rs104886387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886387(A;A)
Make rs104886387(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108665496
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886387
ebirs104886387
HLIrs104886387
Exacrs104886387
Varsomers104886387
Maprs104886387
PheGenIrs104886387
hapmaprs104886387
1000 genomesrs104886387
hgdprs104886387
ensemblrs104886387
gopubmedrs104886387
geneviewrs104886387
scholarrs104886387
googlers104886387
pharmgkbrs104886387
gwascentralrs104886387
openSNPrs104886387
23andMers104886387
23andMe allrs104886387
SNP Nexus

SNPshotrs104886387
SNPdbers104886387
MSV3drs104886387
GWAS Ctlgrs104886387
Max Magnitude0
ClinVar
Risk rs104886387(A;A)
Alt rs104886387(A;A)
Reference rs104886387(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107908726C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021502.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso