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rs104886199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886199(G;T)
Make rs104886199(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620382
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886199
ebirs104886199
HLIrs104886199
Exacrs104886199
Varsomers104886199
Maprs104886199
PheGenIrs104886199
hapmaprs104886199
1000 genomesrs104886199
hgdprs104886199
ensemblrs104886199
gopubmedrs104886199
geneviewrs104886199
scholarrs104886199
googlers104886199
pharmgkbrs104886199
gwascentralrs104886199
openSNPrs104886199
23andMers104886199
23andMe allrs104886199
SNP Nexus

SNPshotrs104886199
SNPdbers104886199
MSV3drs104886199
GWAS Ctlgrs104886199
Max Magnitude0
ClinVar
Risk rs104886199(T;T)
Alt rs104886199(T;T)
Reference rs104886199(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863612G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021426.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso