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

rs201697532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201697532(C;T)
Make rs201697532(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position227311838
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs201697532
dbSNP (old)rs201697532
ClinGenrs201697532
ebirs201697532
HLIrs201697532
Exacrs201697532
Gnomadrs201697532
Varsomers201697532
LitVarrs201697532
Maprs201697532
PheGenIrs201697532
Biobankrs201697532
1000 genomesrs201697532
hgdprs201697532
ensemblrs201697532
gopubmedrs201697532
geneviewrs201697532
scholarrs201697532
googlers201697532
pharmgkbrs201697532
gwascentralrs201697532
openSNPrs201697532
23andMers201697532
23andMe allrs201697532
SNPshotrs201697532
SNPdbers201697532
MSV3drs201697532
GWAS Ctlgrs201697532
Max Magnitude0
ClinVar
Risk rs201697532(T;T)
Alt rs201697532(T;T)
Reference Rs201697532(C;C)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228176554C>T
CLNSRC
CLNACC RCV000283598.1,