rs121918265

Orientation

plus

Stabilized

plus

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

Make rs121918265(A;G)

Make rs121918265(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37057211

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918265
dbSNP (classic)	rs121918265
ClinGen	rs121918265
ebi	rs121918265
HLI	rs121918265
Exac	rs121918265
Gnomad	rs121918265
Varsome	rs121918265
LitVar	rs121918265
Map	rs121918265
PheGenI	rs121918265
Biobank	rs121918265
1000 genomes	rs121918265
hgdp	rs121918265
ensembl	rs121918265
geneview	rs121918265
scholar	rs121918265
google	rs121918265
pharmgkb	rs121918265
gwascentral	rs121918265
openSNP	rs121918265
23andMe	rs121918265
SNPshot	rs121918265
SNPdbe	rs121918265
MSV3d	rs121918265
GWAS Ctlg	rs121918265

Max Magnitude

0

OMIM	608667
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918265(G;G)
Alt	rs121918265(G;G)
Reference	Rs121918265(A;A)
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.37057313A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002222.2,