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rs104886042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886042(-;-)
Make rs104886042(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108539783
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886042
ebirs104886042
HLIrs104886042
Exacrs104886042
Varsomers104886042
Maprs104886042
PheGenIrs104886042
hapmaprs104886042
1000 genomesrs104886042
hgdprs104886042
ensemblrs104886042
gopubmedrs104886042
geneviewrs104886042
scholarrs104886042
googlers104886042
pharmgkbrs104886042
gwascentralrs104886042
openSNPrs104886042
23andMers104886042
23andMe allrs104886042
SNP Nexus

SNPshotrs104886042
SNPdbers104886042
MSV3drs104886042
GWAS Ctlgrs104886042
Max Magnitude0
ClinVar
Risk rs104886042(;)
Alt rs104886042(;)
Reference rs104886042(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107783013delG
CLNSRC ClinVar
CLNACC RCV000021118.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso