rs1057518848

Orientation

minus

Stabilized

minus

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

Make rs1057518848(-;CAAT)

Make rs1057518848(CAAT;CAAT)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

55229003

Gene

TCF4

is a	snp
is	mentioned by
dbSNP	rs1057518848
dbSNP (classic)	rs1057518848
ClinGen	rs1057518848
ebi	rs1057518848
HLI	rs1057518848
Exac	rs1057518848
Gnomad	rs1057518848
Varsome	rs1057518848
LitVar	rs1057518848
Map	rs1057518848
PheGenI	rs1057518848
Biobank	rs1057518848
1000 genomes	rs1057518848
hgdp	rs1057518848
ensembl	rs1057518848
geneview	rs1057518848
scholar	rs1057518848
google	rs1057518848
pharmgkb	rs1057518848
gwascentral	rs1057518848
openSNP	rs1057518848
23andMe	rs1057518848
SNPshot	rs1057518848
SNPdbe	rs1057518848
MSV3d	rs1057518848
GWAS Ctlg	rs1057518848

Max Magnitude

0

ClinVar
Risk	rs1057518848(CAAT;CAAT)
Alt	rs1057518848(CAAT;CAAT)
Reference	Rs1057518848(-;-)
Significance	Pathogenic
Disease	Cerebral hypoplasia Global developmental delay
Variation	info
Gene	TCF4
CLNDBN	Cerebral hypoplasia Global developmental delay
Reversed	1
HGVS	NC_000018.9:g.52896235_52896238dupATTG
CLNSRC
CLNACC	RCV000415111.1,