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rs104886216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886216(G;T)
Make rs104886216(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626272
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886216
ebirs104886216
HLIrs104886216
Exacrs104886216
Varsomers104886216
Maprs104886216
PheGenIrs104886216
hapmaprs104886216
1000 genomesrs104886216
hgdprs104886216
ensemblrs104886216
gopubmedrs104886216
geneviewrs104886216
scholarrs104886216
googlers104886216
pharmgkbrs104886216
gwascentralrs104886216
openSNPrs104886216
23andMers104886216
23andMe allrs104886216
SNP Nexus

SNPshotrs104886216
SNPdbers104886216
MSV3drs104886216
GWAS Ctlgrs104886216
Max Magnitude0
ClinVar
Risk rs104886216(T;T)
Alt rs104886216(T;T)
Reference rs104886216(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869502G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021477.1,


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

OMIM301050
Desc
Variant
Relatedalso