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rs104886227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886227(-;-)
Make rs104886227(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108665546
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886227
ebirs104886227
HLIrs104886227
Exacrs104886227
Varsomers104886227
Maprs104886227
PheGenIrs104886227
hapmaprs104886227
1000 genomesrs104886227
hgdprs104886227
ensemblrs104886227
gopubmedrs104886227
geneviewrs104886227
scholarrs104886227
googlers104886227
pharmgkbrs104886227
gwascentralrs104886227
openSNPrs104886227
23andMers104886227
23andMe allrs104886227
SNP Nexus

SNPshotrs104886227
SNPdbers104886227
MSV3drs104886227
GWAS Ctlgrs104886227
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs104886227(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107908776delC
CLNSRC ClinVar
CLNACC RCV000021508.1,


[PMID 17396119] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

OMIM301050
Desc
Variant
Relatedalso