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rs104886420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs104886420(-;-)
Make rs104886420(-;GA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687620
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886420
ebirs104886420
HLIrs104886420
Exacrs104886420
Varsomers104886420
Maprs104886420
PheGenIrs104886420
hapmaprs104886420
1000 genomesrs104886420
hgdprs104886420
ensemblrs104886420
gopubmedrs104886420
geneviewrs104886420
scholarrs104886420
googlers104886420
pharmgkbrs104886420
gwascentralrs104886420
openSNPrs104886420
23andMers104886420
23andMe allrs104886420
SNP Nexus

SNPshotrs104886420
SNPdbers104886420
MSV3drs104886420
GWAS Ctlgrs104886420
Max Magnitude0
ClinVar
Risk rs104886420(;)
Alt rs104886420(;)
Reference rs104886420(GA;GA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930850_107930851delGA
CLNSRC ClinVar
CLNACC RCV000021616.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso