rs1057518864

Orientation

minus

Stabilized

minus

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

Make rs1057518864(A;A)

Make rs1057518864(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

55350409

Gene

TCF4

is a	snp
is	mentioned by
dbSNP	rs1057518864
dbSNP (classic)	rs1057518864
ClinGen	rs1057518864
ebi	rs1057518864
HLI	rs1057518864
Exac	rs1057518864
Gnomad	rs1057518864
Varsome	rs1057518864
LitVar	rs1057518864
Map	rs1057518864
PheGenI	rs1057518864
Biobank	rs1057518864
1000 genomes	rs1057518864
hgdp	rs1057518864
ensembl	rs1057518864
geneview	rs1057518864
scholar	rs1057518864
google	rs1057518864
pharmgkb	rs1057518864
gwascentral	rs1057518864
openSNP	rs1057518864
23andMe	rs1057518864
SNPshot	rs1057518864
SNPdbe	rs1057518864
MSV3d	rs1057518864
GWAS Ctlg	rs1057518864

Max Magnitude

0

ClinVar
Risk	rs1057518864(A;A)
Alt	rs1057518864(A;A)
Reference	Rs1057518864(G;G)
Significance	Pathogenic
Disease	Anteverted nares Drooling Epicanthus Feeding difficulties in infancy Global developmental delay Short nose Stereotypy
Variation	info
Gene	TCF4
CLNDBN	Anteverted nares Drooling Epicanthus Feeding difficulties in infancy Global developmental delay Short nose Stereotypy
Reversed	1
HGVS	NC_000018.9:g.53017640C>T
CLNSRC
CLNACC	RCV000414838.1,