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rs104886124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886124(-;-)
Make rs104886124(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597069
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886124
ebirs104886124
HLIrs104886124
Exacrs104886124
Varsomers104886124
Maprs104886124
PheGenIrs104886124
hapmaprs104886124
1000 genomesrs104886124
hgdprs104886124
ensemblrs104886124
gopubmedrs104886124
geneviewrs104886124
scholarrs104886124
googlers104886124
pharmgkbrs104886124
gwascentralrs104886124
openSNPrs104886124
23andMers104886124
23andMe allrs104886124
SNP Nexus

SNPshotrs104886124
SNPdbers104886124
MSV3drs104886124
GWAS Ctlgrs104886124
Max Magnitude0
ClinVar
Risk rs104886124(;)
Alt rs104886124(;)
Reference rs104886124(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840299delG
CLNSRC ARUP COL4A5
CLNACC RCV000021305.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso