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rs104886044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886044(-;-)
Make rs104886044(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108563900
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886044
ebirs104886044
HLIrs104886044
Exacrs104886044
Varsomers104886044
Maprs104886044
PheGenIrs104886044
hapmaprs104886044
1000 genomesrs104886044
hgdprs104886044
ensemblrs104886044
gopubmedrs104886044
geneviewrs104886044
scholarrs104886044
googlers104886044
pharmgkbrs104886044
gwascentralrs104886044
openSNPrs104886044
23andMers104886044
23andMe allrs104886044
SNP Nexus

SNPshotrs104886044
SNPdbers104886044
MSV3drs104886044
GWAS Ctlgrs104886044
Max Magnitude0
ClinVar
Risk rs104886044(;)
Alt rs104886044(;)
Reference rs104886044(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107807130delG
CLNSRC ClinVar
CLNACC RCV000021132.1,


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

OMIM301050
Desc
Variant
Relatedalso