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

rs587593493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGT;AGGT) 0 common in clinvar
Make rs587593493(-;-)
Make rs587593493(-;AGGT)
ReferenceGRCh38 38.1/142
Chromosome1
Position231351570
GeneSPRTN
is asnp
is mentioned by
dbSNPrs587593493
ebirs587593493
HLIrs587593493
Exacrs587593493
Varsomers587593493
Maprs587593493
PheGenIrs587593493
hapmaprs587593493
1000 genomesrs587593493
hgdprs587593493
ensemblrs587593493
gopubmedrs587593493
geneviewrs587593493
scholarrs587593493
googlers587593493
pharmgkbrs587593493
gwascentralrs587593493
openSNPrs587593493
23andMers587593493
23andMe allrs587593493
SNP Nexus

SNPshotrs587593493
SNPdbers587593493
MSV3drs587593493
GWAS Ctlgrs587593493
Max Magnitude0
ClinVar
Risk rs587593493(;)
Alt rs587593493(;)
Reference rs587593493(AGGT;AGGT)
Significance Pathogenic
Disease Ruijs-aalfs syndrome
Variation info
Gene SPRTN
CLNDBN Ruijs-aalfs syndrome
Reversed 0
HGVS NC_000001.10:g.231487317_231487320delGGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000150049.3,