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rs104886275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886275(-;-)
Make rs104886275(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687533
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886275
ebirs104886275
HLIrs104886275
Exacrs104886275
Varsomers104886275
Maprs104886275
PheGenIrs104886275
hapmaprs104886275
1000 genomesrs104886275
hgdprs104886275
ensemblrs104886275
gopubmedrs104886275
geneviewrs104886275
scholarrs104886275
googlers104886275
pharmgkbrs104886275
gwascentralrs104886275
openSNPrs104886275
23andMers104886275
23andMe allrs104886275
SNP Nexus

SNPshotrs104886275
SNPdbers104886275
MSV3drs104886275
GWAS Ctlgrs104886275
Max Magnitude0
ClinVar
Risk rs104886275(;)
Alt rs104886275(;)
Reference rs104886275(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930763delC
CLNSRC ClinVar
CLNACC RCV000021615.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.