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rs104886228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886228(A;A)
Make rs104886228(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108665560
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886228
ClinGenrs104886228
ebirs104886228
HLIrs104886228
Exacrs104886228
Varsomers104886228
Maprs104886228
PheGenIrs104886228
hapmaprs104886228
1000 genomesrs104886228
hgdprs104886228
ensemblrs104886228
gopubmedrs104886228
geneviewrs104886228
scholarrs104886228
googlers104886228
pharmgkbrs104886228
gwascentralrs104886228
openSNPrs104886228
23andMers104886228
23andMe allrs104886228
SNP Nexus

SNPshotrs104886228
SNPdbers104886228
MSV3drs104886228
GWAS Ctlgrs104886228
Max Magnitude0
ClinVar
Risk rs104886228(A;A)
Alt rs104886228(A;A)
Reference Rs104886228(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107908790G>A
CLNSRC ARUP COL4A5 UniProtKB (protein)
CLNACC RCV000021509.1,


[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