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rs104886394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886394(-;-)
Make rs104886394(-;GGCA)
Make rs104886394(GGCA;GGCA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668471
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886394
ebirs104886394
HLIrs104886394
Exacrs104886394
Varsomers104886394
Maprs104886394
PheGenIrs104886394
hapmaprs104886394
1000 genomesrs104886394
hgdprs104886394
ensemblrs104886394
gopubmedrs104886394
geneviewrs104886394
scholarrs104886394
googlers104886394
pharmgkbrs104886394
gwascentralrs104886394
openSNPrs104886394
23andMers104886394
23andMe allrs104886394
SNP Nexus

SNPshotrs104886394
SNPdbers104886394
MSV3drs104886394
GWAS Ctlgrs104886394
Max Magnitude0
ClinVar
Risk rs104886394(AGGC;AGGC)
Alt rs104886394(AGGC;AGGC)
Reference rs104886394(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911698_107911701dupGGCA
CLNSRC ClinVar
CLNACC RCV000021559.1,


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

OMIM301050
Desc
Variant
Relatedalso