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rs104886222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886222(C;G)
Make rs104886222(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626315
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886222
ebirs104886222
HLIrs104886222
Exacrs104886222
Varsomers104886222
Maprs104886222
PheGenIrs104886222
hapmaprs104886222
1000 genomesrs104886222
hgdprs104886222
ensemblrs104886222
gopubmedrs104886222
geneviewrs104886222
scholarrs104886222
googlers104886222
pharmgkbrs104886222
gwascentralrs104886222
openSNPrs104886222
23andMers104886222
23andMe allrs104886222
SNP Nexus

SNPshotrs104886222
SNPdbers104886222
MSV3drs104886222
GWAS Ctlgrs104886222
Max Magnitude0
ClinVar
Risk rs104886222(G;G)
Alt rs104886222(G;G)
Reference rs104886222(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869545C>G
CLNSRC ARUP COL4A5
CLNACC RCV000021485.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso