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rs104886223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886223(A;A)
Make rs104886223(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655331
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886223
ebirs104886223
HLIrs104886223
Exacrs104886223
Varsomers104886223
Maprs104886223
PheGenIrs104886223
hapmaprs104886223
1000 genomesrs104886223
hgdprs104886223
ensemblrs104886223
gopubmedrs104886223
geneviewrs104886223
scholarrs104886223
googlers104886223
pharmgkbrs104886223
gwascentralrs104886223
openSNPrs104886223
23andMers104886223
23andMe allrs104886223
SNP Nexus

SNPshotrs104886223
SNPdbers104886223
MSV3drs104886223
GWAS Ctlgrs104886223
Max Magnitude0
ClinVar
Risk rs104886223(A;A)
Alt rs104886223(A;A)
Reference rs104886223(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898561G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021486.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso