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rs104886435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGGCCCTCCTGGTCCACC;AGGGCCCTCCTGGTCCACC) 0 common in clinvar
(GGCCCTCCTGGTCCACCAG;GGCCCTCCTGGTCCACCAG) 0 common in clinvar
Make rs104886435(-;-)
Make rs104886435(-;GGCCCTCCTGGTCCACCAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577952
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886435
dbSNP (old)rs104886435
ClinGenrs104886435
ebirs104886435
HLIrs104886435
Exacrs104886435
Varsomers104886435
Maprs104886435
PheGenIrs104886435
Biobankrs104886435
1000 genomesrs104886435
hgdprs104886435
ensemblrs104886435
gopubmedrs104886435
geneviewrs104886435
scholarrs104886435
googlers104886435
pharmgkbrs104886435
gwascentralrs104886435
openSNPrs104886435
23andMers104886435
23andMe allrs104886435
SNP Nexus

SNPshotrs104886435
SNPdbers104886435
MSV3drs104886435
GWAS Ctlgrs104886435
Max Magnitude0
ClinVar
Risk rs104886435(-;-)
Alt rs104886435(-;-)
Reference Rs104886435(AGGGCCCTCCTGGTCCACC;AGGGCCCTCCTGGTCCACC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821182_107821200del19
CLNSRC ClinVar
CLNACC RCV000021177.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.