rs1057519592

Orientation

minus

Stabilized

minus

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

Make rs1057519592(-;T)

Make rs1057519592(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

55257324

Gene

TCF4

is a	snp
is	mentioned by
dbSNP	rs1057519592
dbSNP (classic)	rs1057519592
ClinGen	rs1057519592
ebi	rs1057519592
HLI	rs1057519592
Exac	rs1057519592
Gnomad	rs1057519592
Varsome	rs1057519592
LitVar	rs1057519592
Map	rs1057519592
PheGenI	rs1057519592
Biobank	rs1057519592
1000 genomes	rs1057519592
hgdp	rs1057519592
ensembl	rs1057519592
geneview	rs1057519592
scholar	rs1057519592
google	rs1057519592
pharmgkb	rs1057519592
gwascentral	rs1057519592
openSNP	rs1057519592
23andMe	rs1057519592
SNPshot	rs1057519592
SNPdbe	rs1057519592
MSV3d	rs1057519592
GWAS Ctlg	rs1057519592

Max Magnitude

0

ClinVar
Risk	rs1057519592(T;T)
Alt	rs1057519592(T;T)
Reference	Rs1057519592(-;-)
Significance	Probable-Pathogenic
Disease	Pitt-Hopkins syndrome
Variation	info
Gene	TCF4
CLNDBN	Pitt-Hopkins syndrome
Reversed	1
HGVS	NC_000018.9:g.52924556dupA
CLNSRC
CLNACC	RCV000417112.1,