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rs104886143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886143(C;C)
Make rs104886143(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598799
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886143
ebirs104886143
HLIrs104886143
Exacrs104886143
Varsomers104886143
Maprs104886143
PheGenIrs104886143
hapmaprs104886143
1000 genomesrs104886143
hgdprs104886143
ensemblrs104886143
gopubmedrs104886143
geneviewrs104886143
scholarrs104886143
googlers104886143
pharmgkbrs104886143
gwascentralrs104886143
openSNPrs104886143
23andMers104886143
23andMe allrs104886143
SNP Nexus

SNPshotrs104886143
SNPdbers104886143
MSV3drs104886143
GWAS Ctlgrs104886143
Max Magnitude0
ClinVar
Risk rs104886143(C;C)
Alt rs104886143(C;C)
Reference rs104886143(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842029G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021335.1,


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

OMIM301050
Desc
Variant
Relatedalso