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rs104886320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs104886320(-;-)
Make rs104886320(-;AT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591571
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886320
ebirs104886320
HLIrs104886320
Exacrs104886320
Varsomers104886320
Maprs104886320
PheGenIrs104886320
hapmaprs104886320
1000 genomesrs104886320
hgdprs104886320
ensemblrs104886320
gopubmedrs104886320
geneviewrs104886320
scholarrs104886320
googlers104886320
pharmgkbrs104886320
gwascentralrs104886320
openSNPrs104886320
23andMers104886320
23andMe allrs104886320
SNP Nexus

SNPshotrs104886320
SNPdbers104886320
MSV3drs104886320
GWAS Ctlgrs104886320
Max Magnitude0
ClinVar
Risk rs104886320(;)
Alt rs104886320(;)
Reference rs104886320(AT;AT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834801_107834802delAT
CLNSRC ClinVar
CLNACC RCV000021279.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso