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rs104886137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886137(C;C)
Make rs104886137(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597489
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886137
ebirs104886137
HLIrs104886137
Exacrs104886137
Varsomers104886137
Maprs104886137
PheGenIrs104886137
hapmaprs104886137
1000 genomesrs104886137
hgdprs104886137
ensemblrs104886137
gopubmedrs104886137
geneviewrs104886137
scholarrs104886137
googlers104886137
pharmgkbrs104886137
gwascentralrs104886137
openSNPrs104886137
23andMers104886137
23andMe allrs104886137
SNP Nexus

SNPshotrs104886137
SNPdbers104886137
MSV3drs104886137
GWAS Ctlgrs104886137
Max Magnitude0
ClinVar
Risk rs104886137(C;C)
Alt rs104886137(C;C)
Reference rs104886137(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840719G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021316.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso