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rs104886185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886185(A;A)
Make rs104886185(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108615024
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886185
ebirs104886185
HLIrs104886185
Exacrs104886185
Varsomers104886185
Maprs104886185
PheGenIrs104886185
hapmaprs104886185
1000 genomesrs104886185
hgdprs104886185
ensemblrs104886185
gopubmedrs104886185
geneviewrs104886185
scholarrs104886185
googlers104886185
pharmgkbrs104886185
gwascentralrs104886185
openSNPrs104886185
23andMers104886185
23andMe allrs104886185
SNP Nexus

SNPshotrs104886185
SNPdbers104886185
MSV3drs104886185
GWAS Ctlgrs104886185
Max Magnitude0
ClinVar
Risk rs104886185(A;A)
Alt rs104886185(A;A)
Reference rs104886185(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858254G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021409.1,


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

OMIM301050
Desc
Variant
Relatedalso