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rs104886239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886239(-;-)
Make rs104886239(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666568
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886239
ebirs104886239
HLIrs104886239
Exacrs104886239
Varsomers104886239
Maprs104886239
PheGenIrs104886239
hapmaprs104886239
1000 genomesrs104886239
hgdprs104886239
ensemblrs104886239
gopubmedrs104886239
geneviewrs104886239
scholarrs104886239
googlers104886239
pharmgkbrs104886239
gwascentralrs104886239
openSNPrs104886239
23andMers104886239
23andMe allrs104886239
SNP Nexus

SNPshotrs104886239
SNPdbers104886239
MSV3drs104886239
GWAS Ctlgrs104886239
Max Magnitude0
ClinVar
Risk rs104886239(;)
Alt rs104886239(;)
Reference rs104886239(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909798delG
CLNSRC ClinVar
CLNACC RCV000021520.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso