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rs104886197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886197(-;-)
Make rs104886197(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622754
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886197
ebirs104886197
HLIrs104886197
Exacrs104886197
Varsomers104886197
Maprs104886197
PheGenIrs104886197
hapmaprs104886197
1000 genomesrs104886197
hgdprs104886197
ensemblrs104886197
gopubmedrs104886197
geneviewrs104886197
scholarrs104886197
googlers104886197
pharmgkbrs104886197
gwascentralrs104886197
openSNPrs104886197
23andMers104886197
23andMe allrs104886197
SNP Nexus

SNPshotrs104886197
SNPdbers104886197
MSV3drs104886197
GWAS Ctlgrs104886197
Max Magnitude0
ClinVar
Risk rs104886197(;)
Alt rs104886197(;)
Reference rs104886197(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865984delC
CLNSRC ClinVar
CLNACC RCV000021450.1,


[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso