rs1057516034

Orientation

plus

Stabilized

plus

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

Make rs1057516034(C;T)

Make rs1057516034(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

37052453

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs1057516034
dbSNP (classic)	rs1057516034
ClinGen	rs1057516034
ebi	rs1057516034
HLI	rs1057516034
Exac	rs1057516034
Gnomad	rs1057516034
Varsome	rs1057516034
LitVar	rs1057516034
Map	rs1057516034
PheGenI	rs1057516034
Biobank	rs1057516034
1000 genomes	rs1057516034
hgdp	rs1057516034
ensembl	rs1057516034
geneview	rs1057516034
scholar	rs1057516034
google	rs1057516034
pharmgkb	rs1057516034
gwascentral	rs1057516034
openSNP	rs1057516034
23andMe	rs1057516034
SNPshot	rs1057516034
SNPdbe	rs1057516034
MSV3d	rs1057516034
GWAS Ctlg	rs1057516034

Max Magnitude

0

ClinVar
Risk	rs1057516034(T;T)
Alt	rs1057516034(T;T)
Reference	Rs1057516034(C;C)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37052555C>T
CLNSRC
CLNACC	RCV000408616.1,