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rs104886191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886191(A;A)
Make rs104886191(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620373
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886191
ebirs104886191
HLIrs104886191
Exacrs104886191
Varsomers104886191
Maprs104886191
PheGenIrs104886191
hapmaprs104886191
1000 genomesrs104886191
hgdprs104886191
ensemblrs104886191
gopubmedrs104886191
geneviewrs104886191
scholarrs104886191
googlers104886191
pharmgkbrs104886191
gwascentralrs104886191
openSNPrs104886191
23andMers104886191
23andMe allrs104886191
SNP Nexus

SNPshotrs104886191
SNPdbers104886191
MSV3drs104886191
GWAS Ctlgrs104886191
Max Magnitude0
ClinVar
Risk rs104886191(A;A)
Alt rs104886191(A;A)
Reference rs104886191(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863603G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021424.1,


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

OMIM301050
Desc
Variant
Relatedalso