Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886200(-;-)
Make rs104886200(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620392
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886200
ebirs104886200
HLIrs104886200
Exacrs104886200
Varsomers104886200
Maprs104886200
PheGenIrs104886200
hapmaprs104886200
1000 genomesrs104886200
hgdprs104886200
ensemblrs104886200
gopubmedrs104886200
geneviewrs104886200
scholarrs104886200
googlers104886200
pharmgkbrs104886200
gwascentralrs104886200
openSNPrs104886200
23andMers104886200
23andMe allrs104886200
SNP Nexus

SNPshotrs104886200
SNPdbers104886200
MSV3drs104886200
GWAS Ctlgrs104886200
Max Magnitude0
ClinVar
Risk rs104886200(;)
Alt rs104886200(;)
Reference rs104886200(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863622delG
CLNSRC ClinVar
CLNACC RCV000021421.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso