rs147054690

Orientation

plus

Stabilized

plus

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

Make rs147054690(G;T)

Make rs147054690(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

37045577

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs147054690
dbSNP (classic)	rs147054690
ClinGen	rs147054690
ebi	rs147054690
HLI	rs147054690
Exac	rs147054690
Gnomad	rs147054690
Varsome	rs147054690
LitVar	rs147054690
Map	rs147054690
PheGenI	rs147054690
Biobank	rs147054690
1000 genomes	rs147054690
hgdp	rs147054690
ensembl	rs147054690
geneview	rs147054690
scholar	rs147054690
google	rs147054690
pharmgkb	rs147054690
gwascentral	rs147054690
openSNP	rs147054690
23andMe	rs147054690
SNPshot	rs147054690
SNPdbe	rs147054690
MSV3d	rs147054690
GWAS Ctlg	rs147054690

Max Magnitude

0

ClinVar
Risk	rs147054690(T;T)
Alt	rs147054690(T;T)
Reference	Rs147054690(G;G)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37045679G>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146689.1,