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rs104886181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886181(-;-)
Make rs104886181(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620259
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886181
ebirs104886181
HLIrs104886181
Exacrs104886181
Varsomers104886181
Maprs104886181
PheGenIrs104886181
hapmaprs104886181
1000 genomesrs104886181
hgdprs104886181
ensemblrs104886181
gopubmedrs104886181
geneviewrs104886181
scholarrs104886181
googlers104886181
pharmgkbrs104886181
gwascentralrs104886181
openSNPrs104886181
23andMers104886181
23andMe allrs104886181
SNP Nexus

SNPshotrs104886181
SNPdbers104886181
MSV3drs104886181
GWAS Ctlgrs104886181
Max Magnitude0
ClinVar
Risk rs104886181(;)
Alt rs104886181(;)
Reference rs104886181(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863489delG
CLNSRC ClinVar
CLNACC RCV000021411.1,


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

OMIM301050
Desc
Variant
Relatedalso