rs797045003

Orientation

minus

Stabilized

minus

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

Make rs797045003(C;T)

Make rs797045003(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

55261488

Gene

TCF4

is a	snp
is	mentioned by
dbSNP	rs797045003
dbSNP (classic)	rs797045003
ClinGen	rs797045003
ebi	rs797045003
HLI	rs797045003
Exac	rs797045003
Gnomad	rs797045003
Varsome	rs797045003
LitVar	rs797045003
Map	rs797045003
PheGenI	rs797045003
Biobank	rs797045003
1000 genomes	rs797045003
hgdp	rs797045003
ensembl	rs797045003
geneview	rs797045003
scholar	rs797045003
google	rs797045003
pharmgkb	rs797045003
gwascentral	rs797045003
openSNP	rs797045003
23andMe	rs797045003
SNPshot	rs797045003
SNPdbe	rs797045003
MSV3d	rs797045003
GWAS Ctlg	rs797045003

Max Magnitude

0

ClinVar
Risk	rs797045003(T;T)
Alt	rs797045003(T;T)
Reference	Rs797045003(C;C)
Significance	Pathogenic
Disease	Pitt-Hopkins syndrome
Variation	info
Gene	TCF4
CLNDBN	Pitt-Hopkins syndrome
Reversed	1
HGVS	NC_000018.9:g.52928719G>A
CLNSRC
CLNACC	RCV000190500.1,