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rs104886224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886224(G;T)
Make rs104886224(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655395
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886224
ebirs104886224
HLIrs104886224
Exacrs104886224
Varsomers104886224
Maprs104886224
PheGenIrs104886224
hapmaprs104886224
1000 genomesrs104886224
hgdprs104886224
ensemblrs104886224
gopubmedrs104886224
geneviewrs104886224
scholarrs104886224
googlers104886224
pharmgkbrs104886224
gwascentralrs104886224
openSNPrs104886224
23andMers104886224
23andMe allrs104886224
SNP Nexus

SNPshotrs104886224
SNPdbers104886224
MSV3drs104886224
GWAS Ctlgrs104886224
Max Magnitude0
ClinVar
Risk rs104886224(T;T)
Alt rs104886224(T;T)
Reference rs104886224(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898625G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021495.1,


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

OMIM301050
Desc
Variant
Relatedalso