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rs104886304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886304(-;-)
Make rs104886304(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108695431
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886304
ebirs104886304
HLIrs104886304
Exacrs104886304
Varsomers104886304
Maprs104886304
PheGenIrs104886304
hapmaprs104886304
1000 genomesrs104886304
hgdprs104886304
ensemblrs104886304
gopubmedrs104886304
geneviewrs104886304
scholarrs104886304
googlers104886304
pharmgkbrs104886304
gwascentralrs104886304
openSNPrs104886304
23andMers104886304
23andMe allrs104886304
SNP Nexus

SNPshotrs104886304
SNPdbers104886304
MSV3drs104886304
GWAS Ctlgrs104886304
Max Magnitude0
ClinVar
Risk rs104886304(;)
Alt rs104886304(;)
Reference rs104886304(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938661delC
CLNSRC ClinVar
CLNACC RCV000021661.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso