rs121918264

Orientation

plus

Stabilized

plus

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

Make rs121918264(A;A)

Make rs121918264(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

36953698

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918264
dbSNP (classic)	rs121918264
ClinGen	rs121918264
ebi	rs121918264
HLI	rs121918264
Exac	rs121918264
Gnomad	rs121918264
Varsome	rs121918264
LitVar	rs121918264
Map	rs121918264
PheGenI	rs121918264
Biobank	rs121918264
1000 genomes	rs121918264
hgdp	rs121918264
ensembl	rs121918264
geneview	rs121918264
scholar	rs121918264
google	rs121918264
pharmgkb	rs121918264
gwascentral	rs121918264
openSNP	rs121918264
23andMe	rs121918264
SNPshot	rs121918264
SNPdbe	rs121918264
MSV3d	rs121918264
GWAS Ctlg	rs121918264

Max Magnitude

0

OMIM	608667
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918264(A;A)
Alt	rs121918264(A;A)
Reference	Rs121918264(T;T)
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.36953800T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002221.2,