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rs104886366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886366(-;-)
Make rs104886366(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621894
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886366
ebirs104886366
HLIrs104886366
Exacrs104886366
Varsomers104886366
Maprs104886366
PheGenIrs104886366
hapmaprs104886366
1000 genomesrs104886366
hgdprs104886366
ensemblrs104886366
gopubmedrs104886366
geneviewrs104886366
scholarrs104886366
googlers104886366
pharmgkbrs104886366
gwascentralrs104886366
openSNPrs104886366
23andMers104886366
23andMe allrs104886366
SNP Nexus

SNPshotrs104886366
SNPdbers104886366
MSV3drs104886366
GWAS Ctlgrs104886366
Max Magnitude0
ClinVar
Risk rs104886366(;)
Alt rs104886366(;)
Reference rs104886366(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865124delT
CLNSRC ClinVar
CLNACC RCV000021441.1,


OMIM301050
Desc
Variant
Relatedalso

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