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rs797045565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045565(A;TTTTAT)
Make rs797045565(TTTTAT;TTTTAT)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position27780206
GeneESCO2
is asnp
is mentioned by
dbSNPrs797045565
dbSNP (old)rs797045565
ClinGenrs797045565
ebirs797045565
HLIrs797045565
Exacrs797045565
Varsomers797045565
Maprs797045565
PheGenIrs797045565
Biobankrs797045565
1000 genomesrs797045565
hgdprs797045565
ensemblrs797045565
gopubmedrs797045565
geneviewrs797045565
scholarrs797045565
googlers797045565
pharmgkbrs797045565
gwascentralrs797045565
openSNPrs797045565
23andMers797045565
23andMe allrs797045565
SNP Nexus

SNPshotrs797045565
SNPdbers797045565
MSV3drs797045565
GWAS Ctlgrs797045565
Max Magnitude0
ClinVar
Risk rs797045565(TTTTAT;TTTTAT)
Alt rs797045565(TTTTAT;TTTTAT)
Reference Rs797045565(A;A)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637723delAinsTTTTAT
CLNSRC
CLNACC RCV000193201.1,