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rs104886240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886240(A;A)
Make rs104886240(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666576
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886240
ebirs104886240
HLIrs104886240
Exacrs104886240
Varsomers104886240
Maprs104886240
PheGenIrs104886240
hapmaprs104886240
1000 genomesrs104886240
hgdprs104886240
ensemblrs104886240
gopubmedrs104886240
geneviewrs104886240
scholarrs104886240
googlers104886240
pharmgkbrs104886240
gwascentralrs104886240
openSNPrs104886240
23andMers104886240
23andMe allrs104886240
SNP Nexus

SNPshotrs104886240
SNPdbers104886240
MSV3drs104886240
GWAS Ctlgrs104886240
Max Magnitude0
ClinVar
Risk rs104886240(A;A)
Alt rs104886240(A;A)
Reference rs104886240(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909806G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021521.1,


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

OMIM301050
Desc
Variant
Relatedalso