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rs104886238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886238(-;-)
Make rs104886238(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666550
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886238
ebirs104886238
HLIrs104886238
Exacrs104886238
Varsomers104886238
Maprs104886238
PheGenIrs104886238
hapmaprs104886238
1000 genomesrs104886238
hgdprs104886238
ensemblrs104886238
gopubmedrs104886238
geneviewrs104886238
scholarrs104886238
googlers104886238
pharmgkbrs104886238
gwascentralrs104886238
openSNPrs104886238
23andMers104886238
23andMe allrs104886238
SNP Nexus

SNPshotrs104886238
SNPdbers104886238
MSV3drs104886238
GWAS Ctlgrs104886238
Max Magnitude0
ClinVar
Risk rs104886238(;)
Alt rs104886238(;)
Reference rs104886238(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909780delG
CLNSRC ClinVar
CLNACC RCV000021518.1,


[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