rs797045565

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs797045565(A;TTTTAT)

Make rs797045565(TTTTAT;TTTTAT)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

27780206

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs797045565
dbSNP (classic)	rs797045565
ClinGen	rs797045565
ebi	rs797045565
HLI	rs797045565
Exac	rs797045565
Gnomad	rs797045565
Varsome	rs797045565
LitVar	rs797045565
Map	rs797045565
PheGenI	rs797045565
Biobank	rs797045565
1000 genomes	rs797045565
hgdp	rs797045565
ensembl	rs797045565
geneview	rs797045565
scholar	rs797045565
google	rs797045565
pharmgkb	rs797045565
gwascentral	rs797045565
openSNP	rs797045565
23andMe	rs797045565
SNPshot	rs797045565
SNPdbe	rs797045565
MSV3d	rs797045565
GWAS Ctlg	rs797045565

Max Magnitude

0

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,