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rs104886427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs104886427(-;-)
Make rs104886427(-;CT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440174
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs104886427
ebirs104886427
HLIrs104886427
Exacrs104886427
Varsomers104886427
Maprs104886427
PheGenIrs104886427
hapmaprs104886427
1000 genomesrs104886427
hgdprs104886427
ensemblrs104886427
gopubmedrs104886427
geneviewrs104886427
scholarrs104886427
googlers104886427
pharmgkbrs104886427
gwascentralrs104886427
openSNPrs104886427
23andMers104886427
23andMe allrs104886427
SNP Nexus

SNPshotrs104886427
SNPdbers104886427
MSV3drs104886427
GWAS Ctlgrs104886427
Max Magnitude0
ClinVar
Risk rs104886427(;)
Alt rs104886427(;)
Reference rs104886427(CT;CT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683404_107683405delCT
CLNSRC ClinVar
CLNACC RCV000021106.1,


[PMID 19693995] Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso