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rs797045566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045566(-;A)
Make rs797045566(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position27780223
GeneESCO2
is asnp
is mentioned by
dbSNPrs797045566
dbSNP (old)rs797045566
ClinGenrs797045566
ebirs797045566
HLIrs797045566
Exacrs797045566
Gnomadrs797045566
Varsomers797045566
Maprs797045566
PheGenIrs797045566
Biobankrs797045566
1000 genomesrs797045566
hgdprs797045566
ensemblrs797045566
gopubmedrs797045566
geneviewrs797045566
scholarrs797045566
googlers797045566
pharmgkbrs797045566
gwascentralrs797045566
openSNPrs797045566
23andMers797045566
23andMe allrs797045566
SNP Nexus

SNPshotrs797045566
SNPdbers797045566
MSV3drs797045566
GWAS Ctlgrs797045566
Max Magnitude0
ClinVar
Risk rs797045566(A;A)
Alt rs797045566(A;A)
Reference Rs797045566(-;-)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637740dupA
CLNSRC
CLNACC RCV000194407.1,