Have questions? Visit https://www.reddit.com/r/SNPedia

rs771943519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATGAGT;ATGAGT) 0 common in clinvar
Make rs771943519(-;-)
Make rs771943519(-;ATGAGT)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position227144544
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs771943519
dbSNP (classic)rs771943519
ClinGenrs771943519
ebirs771943519
HLIrs771943519
Exacrs771943519
Gnomadrs771943519
Varsomers771943519
LitVarrs771943519
Maprs771943519
PheGenIrs771943519
Biobankrs771943519
1000 genomesrs771943519
hgdprs771943519
ensemblrs771943519
geneviewrs771943519
scholarrs771943519
googlers771943519
pharmgkbrs771943519
gwascentralrs771943519
openSNPrs771943519
23andMers771943519
SNPshotrs771943519
SNPdbers771943519
MSV3drs771943519
GWAS Ctlgrs771943519
Max Magnitude0
ClinVar
Risk rs771943519(-;-)
Alt rs771943519(-;-)
Reference Rs771943519(ATGAGT;ATGAGT)
Significance Probable-Pathogenic
Disease Alport syndrome not specified
Variation info
Gene COL4A4
CLNDBN Alport syndrome, autosomal dominant not specified
Reversed 0
HGVS NC_000002.11:g.228009260_228009265delATGAGT
CLNSRC
CLNACC RCV000408829.1, RCV000483576.1,