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rs104886301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886301(-;-)
Make rs104886301(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695295
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886301
ebirs104886301
HLIrs104886301
Exacrs104886301
Varsomers104886301
Maprs104886301
PheGenIrs104886301
hapmaprs104886301
1000 genomesrs104886301
hgdprs104886301
ensemblrs104886301
gopubmedrs104886301
geneviewrs104886301
scholarrs104886301
googlers104886301
pharmgkbrs104886301
gwascentralrs104886301
openSNPrs104886301
23andMers104886301
23andMe allrs104886301
SNP Nexus

SNPshotrs104886301
SNPdbers104886301
MSV3drs104886301
GWAS Ctlgrs104886301
Max Magnitude0
ClinVar
Risk rs104886301(;)
Alt rs104886301(;)
Reference rs104886301(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938525delG
CLNSRC ClinVar
CLNACC RCV000021657.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso