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rs104886236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886236(A;A)
Make rs104886236(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666540
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886236
ebirs104886236
HLIrs104886236
Exacrs104886236
Varsomers104886236
Maprs104886236
PheGenIrs104886236
hapmaprs104886236
1000 genomesrs104886236
hgdprs104886236
ensemblrs104886236
gopubmedrs104886236
geneviewrs104886236
scholarrs104886236
googlers104886236
pharmgkbrs104886236
gwascentralrs104886236
openSNPrs104886236
23andMers104886236
23andMe allrs104886236
SNP Nexus

SNPshotrs104886236
SNPdbers104886236
MSV3drs104886236
GWAS Ctlgrs104886236
Max Magnitude0
ClinVar
Risk rs104886236(A;A)
Alt rs104886236(A;A)
Reference Rs104886236(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909770G>A
CLNSRC ARUP COL4A5 UniProtKB (protein)
CLNACC RCV000021516.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso