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rs104886331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886331(A;A)
Make rs104886331(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595602
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886331
ebirs104886331
HLIrs104886331
Exacrs104886331
Varsomers104886331
Maprs104886331
PheGenIrs104886331
hapmaprs104886331
1000 genomesrs104886331
hgdprs104886331
ensemblrs104886331
gopubmedrs104886331
geneviewrs104886331
scholarrs104886331
googlers104886331
pharmgkbrs104886331
gwascentralrs104886331
openSNPrs104886331
23andMers104886331
23andMe allrs104886331
SNP Nexus

SNPshotrs104886331
SNPdbers104886331
MSV3drs104886331
GWAS Ctlgrs104886331
Max Magnitude0
ClinVar
Risk rs104886331(A;A)
Alt rs104886331(A;A)
Reference rs104886331(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838832G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021299.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso