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rs104886176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886176(G;T)
Make rs104886176(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606857
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886176
ebirs104886176
HLIrs104886176
Exacrs104886176
Varsomers104886176
Maprs104886176
PheGenIrs104886176
hapmaprs104886176
1000 genomesrs104886176
hgdprs104886176
ensemblrs104886176
gopubmedrs104886176
geneviewrs104886176
scholarrs104886176
googlers104886176
pharmgkbrs104886176
gwascentralrs104886176
openSNPrs104886176
23andMers104886176
23andMe allrs104886176
SNP Nexus

SNPshotrs104886176
SNPdbers104886176
MSV3drs104886176
GWAS Ctlgrs104886176
Max Magnitude0
ClinVar
Risk rs104886176(C,T;C,T)
Alt rs104886176(C,T;C,T)
Reference rs104886176(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850087G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021391.1,


[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso