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rs527236212

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236212(-;-)
Make rs527236212(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position231352612
GeneSPRTN
is asnp
is mentioned by
dbSNPrs527236212
ebirs527236212
HLIrs527236212
Exacrs527236212
Varsomers527236212
Maprs527236212
PheGenIrs527236212
hapmaprs527236212
1000 genomesrs527236212
hgdprs527236212
ensemblrs527236212
gopubmedrs527236212
geneviewrs527236212
scholarrs527236212
googlers527236212
pharmgkbrs527236212
gwascentralrs527236212
openSNPrs527236212
23andMers527236212
23andMe allrs527236212
SNP Nexus

SNPshotrs527236212
SNPdbers527236212
MSV3drs527236212
GWAS Ctlgrs527236212
Max Magnitude0
ClinVar
Risk rs527236212(;)
Alt rs527236212(;)
Reference rs527236212(A;A)
Significance Pathogenic
Disease Ruijs-aalfs syndrome
Variation info
Gene SPRTN
CLNDBN Ruijs-aalfs syndrome
Reversed 0
HGVS NC_000001.10:g.231488360delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000150048.3,