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rs104886211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886211(G;T)
Make rs104886211(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625732
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886211
ebirs104886211
HLIrs104886211
Exacrs104886211
Varsomers104886211
Maprs104886211
PheGenIrs104886211
hapmaprs104886211
1000 genomesrs104886211
hgdprs104886211
ensemblrs104886211
gopubmedrs104886211
geneviewrs104886211
scholarrs104886211
googlers104886211
pharmgkbrs104886211
gwascentralrs104886211
openSNPrs104886211
23andMers104886211
23andMe allrs104886211
SNP Nexus

SNPshotrs104886211
SNPdbers104886211
MSV3drs104886211
GWAS Ctlgrs104886211
Max Magnitude0
ClinVar
Risk rs104886211(T;T)
Alt rs104886211(T;T)
Reference rs104886211(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868962G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021466.1,


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

OMIM301050
Desc
Variant
Relatedalso