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rs146312522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146312522(A;A)
Make rs146312522(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position27788890
GeneESCO2
is asnp
is mentioned by
dbSNPrs146312522
ebirs146312522
HLIrs146312522
Exacrs146312522
Varsomers146312522
Maprs146312522
PheGenIrs146312522
hapmaprs146312522
1000 genomesrs146312522
hgdprs146312522
ensemblrs146312522
gopubmedrs146312522
geneviewrs146312522
scholarrs146312522
googlers146312522
pharmgkbrs146312522
gwascentralrs146312522
openSNPrs146312522
23andMers146312522
23andMe allrs146312522
SNP Nexus

SNPshotrs146312522
SNPdbers146312522
MSV3drs146312522
GWAS Ctlgrs146312522
Max Magnitude0
ClinVar
Risk rs146312522(A;A)
Alt rs146312522(A;A)
Reference rs146312522(G;G)
Significance Probable-Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27646407G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000145965.1,