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rs104886212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886212(G;T)
Make rs104886212(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626210
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886212
ebirs104886212
HLIrs104886212
Exacrs104886212
Varsomers104886212
Maprs104886212
PheGenIrs104886212
hapmaprs104886212
1000 genomesrs104886212
hgdprs104886212
ensemblrs104886212
gopubmedrs104886212
geneviewrs104886212
scholarrs104886212
googlers104886212
pharmgkbrs104886212
gwascentralrs104886212
openSNPrs104886212
23andMers104886212
23andMe allrs104886212
SNP Nexus

SNPshotrs104886212
SNPdbers104886212
MSV3drs104886212
GWAS Ctlgrs104886212
Max Magnitude0
ClinVar
Risk rs104886212(T;T)
Alt rs104886212(T;T)
Reference rs104886212(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869440G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021473.1,


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

OMIM301050
Desc
Variant
Relatedalso