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rs104886292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886292(A;A)
Make rs104886292(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692800
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886292
ebirs104886292
HLIrs104886292
Exacrs104886292
Varsomers104886292
Maprs104886292
PheGenIrs104886292
hapmaprs104886292
1000 genomesrs104886292
hgdprs104886292
ensemblrs104886292
gopubmedrs104886292
geneviewrs104886292
scholarrs104886292
googlers104886292
pharmgkbrs104886292
gwascentralrs104886292
openSNPrs104886292
23andMers104886292
23andMe allrs104886292
SNP Nexus

SNPshotrs104886292
SNPdbers104886292
MSV3drs104886292
GWAS Ctlgrs104886292
Max Magnitude0
ClinVar
Risk rs104886292(A;A)
Alt rs104886292(A;A)
Reference rs104886292(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936030C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021629.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.