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rs104886160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886160(G;T)
Make rs104886160(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601894
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886160
ebirs104886160
HLIrs104886160
Exacrs104886160
Varsomers104886160
Maprs104886160
PheGenIrs104886160
hapmaprs104886160
1000 genomesrs104886160
hgdprs104886160
ensemblrs104886160
gopubmedrs104886160
geneviewrs104886160
scholarrs104886160
googlers104886160
pharmgkbrs104886160
gwascentralrs104886160
openSNPrs104886160
23andMers104886160
23andMe allrs104886160
SNP Nexus

SNPshotrs104886160
SNPdbers104886160
MSV3drs104886160
GWAS Ctlgrs104886160
Max Magnitude0
ClinVar
Risk rs104886160(T;T)
Alt rs104886160(T;T)
Reference rs104886160(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845124G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021359.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

OMIM301050
Desc
Variant
Relatedalso