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rs104886167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886167(-;-)
Make rs104886167(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601900
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886167
ebirs104886167
HLIrs104886167
Exacrs104886167
Varsomers104886167
Maprs104886167
PheGenIrs104886167
hapmaprs104886167
1000 genomesrs104886167
hgdprs104886167
ensemblrs104886167
gopubmedrs104886167
geneviewrs104886167
scholarrs104886167
googlers104886167
pharmgkbrs104886167
gwascentralrs104886167
openSNPrs104886167
23andMers104886167
23andMe allrs104886167
SNP Nexus

SNPshotrs104886167
SNPdbers104886167
MSV3drs104886167
GWAS Ctlgrs104886167
Max Magnitude0
ClinVar
Risk rs104886167(;)
Alt rs104886167(;)
Reference rs104886167(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845130delC
CLNSRC ClinVar
CLNACC RCV000021361.1,


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

OMIM301050
Desc
Variant
Relatedalso