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rs104886083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886083(A;A)
Make rs104886083(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108581019
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886083
ebirs104886083
HLIrs104886083
Exacrs104886083
Varsomers104886083
Maprs104886083
PheGenIrs104886083
hapmaprs104886083
1000 genomesrs104886083
hgdprs104886083
ensemblrs104886083
gopubmedrs104886083
geneviewrs104886083
scholarrs104886083
googlers104886083
pharmgkbrs104886083
gwascentralrs104886083
openSNPrs104886083
23andMers104886083
23andMe allrs104886083
SNP Nexus

SNPshotrs104886083
SNPdbers104886083
MSV3drs104886083
GWAS Ctlgrs104886083
Max Magnitude0
ClinVar
Risk rs104886083(A;A)
Alt rs104886083(A;A)
Reference rs104886083(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824249G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021221.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso