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rs104886217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886217(G;T)
Make rs104886217(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626281
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886217
ebirs104886217
HLIrs104886217
Exacrs104886217
Varsomers104886217
Maprs104886217
PheGenIrs104886217
hapmaprs104886217
1000 genomesrs104886217
hgdprs104886217
ensemblrs104886217
gopubmedrs104886217
geneviewrs104886217
scholarrs104886217
googlers104886217
pharmgkbrs104886217
gwascentralrs104886217
openSNPrs104886217
23andMers104886217
23andMe allrs104886217
SNP Nexus

SNPshotrs104886217
SNPdbers104886217
MSV3drs104886217
GWAS Ctlgrs104886217
Max Magnitude0
ClinVar
Risk rs104886217(T;T)
Alt rs104886217(T;T)
Reference rs104886217(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869511G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021478.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso