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rs104886443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs104886443(-;-)
Make rs104886443(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578364
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886443
ebirs104886443
HLIrs104886443
Exacrs104886443
Varsomers104886443
Maprs104886443
PheGenIrs104886443
hapmaprs104886443
1000 genomesrs104886443
hgdprs104886443
ensemblrs104886443
gopubmedrs104886443
geneviewrs104886443
scholarrs104886443
googlers104886443
pharmgkbrs104886443
gwascentralrs104886443
openSNPrs104886443
23andMers104886443
23andMe allrs104886443
SNP Nexus

SNPshotrs104886443
SNPdbers104886443
MSV3drs104886443
GWAS Ctlgrs104886443
Max Magnitude0
ClinVar
Risk rs104886443(;)
Alt rs104886443(;)
Reference rs104886443(AG;AG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821594_107821595delAG
CLNSRC ClinVar
CLNACC RCV000021196.1,


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

OMIM301050
Desc
Variant
Relatedalso