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rs104886054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886054(-;-)
Make rs104886054(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571818
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886054
ebirs104886054
HLIrs104886054
Exacrs104886054
Varsomers104886054
Maprs104886054
PheGenIrs104886054
hapmaprs104886054
1000 genomesrs104886054
hgdprs104886054
ensemblrs104886054
gopubmedrs104886054
geneviewrs104886054
scholarrs104886054
googlers104886054
pharmgkbrs104886054
gwascentralrs104886054
openSNPrs104886054
23andMers104886054
23andMe allrs104886054
SNP Nexus

SNPshotrs104886054
SNPdbers104886054
MSV3drs104886054
GWAS Ctlgrs104886054
Max Magnitude0
ClinVar
Risk rs104886054(;)
Alt rs104886054(;)
Reference rs104886054(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107815048delC
CLNSRC ClinVar
CLNACC RCV000021152.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso