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rs527236213

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236213(A;G)
Make rs527236213(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position231347825
GeneSPRTN
is asnp
is mentioned by
dbSNPrs527236213
ebirs527236213
HLIrs527236213
Exacrs527236213
Varsomers527236213
Maprs527236213
PheGenIrs527236213
hapmaprs527236213
1000 genomesrs527236213
hgdprs527236213
ensemblrs527236213
gopubmedrs527236213
geneviewrs527236213
scholarrs527236213
googlers527236213
pharmgkbrs527236213
gwascentralrs527236213
openSNPrs527236213
23andMers527236213
23andMe allrs527236213
SNP Nexus

SNPshotrs527236213
SNPdbers527236213
MSV3drs527236213
GWAS Ctlgrs527236213
Max Magnitude0
ClinVar
Risk rs527236213(G;G)
Alt rs527236213(G;G)
Reference rs527236213(A;A)
Significance Pathogenic
Disease Ruijs-aalfs syndrome
Variation info
Gene SPRTN
CLNDBN Ruijs-aalfs syndrome
Reversed 0
HGVS NC_000001.10:g.231483571A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000150050.3,