rs1057518944

Orientation

plus

Stabilized

plus

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

Make rs1057518944(-;-)

Make rs1057518944(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

36984990

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs1057518944
dbSNP (classic)	rs1057518944
ClinGen	rs1057518944
ebi	rs1057518944
HLI	rs1057518944
Exac	rs1057518944
Gnomad	rs1057518944
Varsome	rs1057518944
LitVar	rs1057518944
Map	rs1057518944
PheGenI	rs1057518944
Biobank	rs1057518944
1000 genomes	rs1057518944
hgdp	rs1057518944
ensembl	rs1057518944
geneview	rs1057518944
scholar	rs1057518944
google	rs1057518944
pharmgkb	rs1057518944
gwascentral	rs1057518944
openSNP	rs1057518944
23andMe	rs1057518944
SNPshot	rs1057518944
SNPdbe	rs1057518944
MSV3d	rs1057518944
GWAS Ctlg	rs1057518944

Max Magnitude

0

ClinVar
Risk	rs1057518944(-;-)
Alt	rs1057518944(-;-)
Reference	Rs1057518944(TC;TC)
Significance	Probable-Pathogenic
Disease	Congenital diaphragmatic hernia Cryptorchidism Hypospadias Intrauterine growth retardation Long philtrum Microretrognathia Pulmonary hypoplasia Right ventricular hypertrophy Single umbilical artery
Variation	info
Gene	NIPBL
CLNDBN	Congenital diaphragmatic hernia Cryptorchidism Hypospadias Intrauterine growth retardation Long philtrum Microretrognathia Pulmonary hypoplasia Right ventricular hypertrophy Single umbilical artery
Reversed	0
HGVS	NC_000005.9:g.36985092_36985093delTC
CLNSRC
CLNACC	RCV000414869.1,