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rs104886234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886234(-;-)
Make rs104886234(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666515
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886234
ebirs104886234
HLIrs104886234
Exacrs104886234
Varsomers104886234
Maprs104886234
PheGenIrs104886234
hapmaprs104886234
1000 genomesrs104886234
hgdprs104886234
ensemblrs104886234
gopubmedrs104886234
geneviewrs104886234
scholarrs104886234
googlers104886234
pharmgkbrs104886234
gwascentralrs104886234
openSNPrs104886234
23andMers104886234
23andMe allrs104886234
SNP Nexus

SNPshotrs104886234
SNPdbers104886234
MSV3drs104886234
GWAS Ctlgrs104886234
Max Magnitude0
ClinVar
Risk rs104886234(;)
Alt rs104886234(;)
Reference rs104886234(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909745delG
CLNSRC ClinVar
CLNACC RCV000021514.1,


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

OMIM301050
Desc
Variant
Relatedalso