rs587784462

Orientation

minus

Stabilized

minus

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

Make rs587784462(C;C)

Make rs587784462(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

55228886

Gene

TCF4

is a	snp
is	mentioned by
dbSNP	rs587784462
dbSNP (classic)	rs587784462
ClinGen	rs587784462
ebi	rs587784462
HLI	rs587784462
Exac	rs587784462
Gnomad	rs587784462
Varsome	rs587784462
LitVar	rs587784462
Map	rs587784462
PheGenI	rs587784462
Biobank	rs587784462
1000 genomes	rs587784462
hgdp	rs587784462
ensembl	rs587784462
geneview	rs587784462
scholar	rs587784462
google	rs587784462
pharmgkb	rs587784462
gwascentral	rs587784462
openSNP	rs587784462
23andMe	rs587784462
SNPshot	rs587784462
SNPdbe	rs587784462
MSV3d	rs587784462
GWAS Ctlg	rs587784462

Max Magnitude

0

ClinVar
Risk	rs587784462(C;C)
Alt	rs587784462(C;C)
Reference	Rs587784462(G;G)
Significance	Probable-Pathogenic
Disease	Pitt-Hopkins syndrome
Variation	info
Gene	TCF4
CLNDBN	Pitt-Hopkins syndrome
Reversed	1
HGVS	NC_000018.9:g.52896117C>G
CLNSRC
CLNACC	RCV000147718.1,