rs121918268

Orientation

plus

Stabilized

plus

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

Make rs121918268(C;G)

Make rs121918268(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37002734

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918268
dbSNP (classic)	rs121918268
ClinGen	rs121918268
ebi	rs121918268
HLI	rs121918268
Exac	rs121918268
Gnomad	rs121918268
Varsome	rs121918268
LitVar	rs121918268
Map	rs121918268
PheGenI	rs121918268
Biobank	rs121918268
1000 genomes	rs121918268
hgdp	rs121918268
ensembl	rs121918268
geneview	rs121918268
scholar	rs121918268
google	rs121918268
pharmgkb	rs121918268
gwascentral	rs121918268
openSNP	rs121918268
23andMe	rs121918268
SNPshot	rs121918268
SNPdbe	rs121918268
MSV3d	rs121918268
GWAS Ctlg	rs121918268

Max Magnitude

0

OMIM	608667
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918268(G;G)
Alt	rs121918268(G;G)
Reference	Rs121918268(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.37002836C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002229.2,