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rs104886445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGGACTT;GGGACTT) 0 common in clinvar
Make rs104886445(-;-)
Make rs104886445(-;GGGACTT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580532
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886445
ebirs104886445
HLIrs104886445
Exacrs104886445
Varsomers104886445
Maprs104886445
PheGenIrs104886445
hapmaprs104886445
1000 genomesrs104886445
hgdprs104886445
ensemblrs104886445
gopubmedrs104886445
geneviewrs104886445
scholarrs104886445
googlers104886445
pharmgkbrs104886445
gwascentralrs104886445
openSNPrs104886445
23andMers104886445
23andMe allrs104886445
SNP Nexus

SNPshotrs104886445
SNPdbers104886445
MSV3drs104886445
GWAS Ctlgrs104886445
Max Magnitude0
ClinVar
Risk rs104886445(;)
Alt rs104886445(;)
Reference rs104886445(GGGACTT;GGGACTT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823762_107823768delGGGACTT
CLNSRC ARUP COL4A5 alpha
CLNACC RCV000021198.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.