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rs104886156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886156(-;-)
Make rs104886156(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601462
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886156
ebirs104886156
HLIrs104886156
Exacrs104886156
Varsomers104886156
Maprs104886156
PheGenIrs104886156
hapmaprs104886156
1000 genomesrs104886156
hgdprs104886156
ensemblrs104886156
gopubmedrs104886156
geneviewrs104886156
scholarrs104886156
googlers104886156
pharmgkbrs104886156
gwascentralrs104886156
openSNPrs104886156
23andMers104886156
23andMe allrs104886156
SNP Nexus

SNPshotrs104886156
SNPdbers104886156
MSV3drs104886156
GWAS Ctlgrs104886156
Max Magnitude0
ClinVar
Risk rs104886156(;)
Alt rs104886156(;)
Reference rs104886156(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844692delG
CLNSRC ClinVar
CLNACC RCV000021352.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso