rs121918267

Orientation

plus

Stabilized

plus

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

Make rs121918267(C;T)

Make rs121918267(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37020615

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918267
dbSNP (classic)	rs121918267
ClinGen	rs121918267
ebi	rs121918267
HLI	rs121918267
Exac	rs121918267
Gnomad	rs121918267
Varsome	rs121918267
LitVar	rs121918267
Map	rs121918267
PheGenI	rs121918267
Biobank	rs121918267
1000 genomes	rs121918267
hgdp	rs121918267
ensembl	rs121918267
geneview	rs121918267
scholar	rs121918267
google	rs121918267
pharmgkb	rs121918267
gwascentral	rs121918267
openSNP	rs121918267
23andMe	rs121918267
SNPshot	rs121918267
SNPdbe	rs121918267
MSV3d	rs121918267
GWAS Ctlg	rs121918267

Max Magnitude

0

OMIM	608667
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918267(T;T)
Alt	rs121918267(T;T)
Reference	Rs121918267(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.37020717C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002228.3,