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rs104886231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886231(C;C)
Make rs104886231(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655340
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886231
ebirs104886231
HLIrs104886231
Exacrs104886231
Varsomers104886231
Maprs104886231
PheGenIrs104886231
hapmaprs104886231
1000 genomesrs104886231
hgdprs104886231
ensemblrs104886231
gopubmedrs104886231
geneviewrs104886231
scholarrs104886231
googlers104886231
pharmgkbrs104886231
gwascentralrs104886231
openSNPrs104886231
23andMers104886231
23andMe allrs104886231
SNP Nexus

SNPshotrs104886231
SNPdbers104886231
MSV3drs104886231
GWAS Ctlgrs104886231
Max Magnitude0
ClinVar
Risk rs104886231(C;C)
Alt rs104886231(C;C)
Reference rs104886231(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898570G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021492.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso