rs121918269

Orientation

plus

Stabilized

plus

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

Make rs121918269(C;T)

Make rs121918269(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37014728

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918269
dbSNP (classic)	rs121918269
ClinGen	rs121918269
ebi	rs121918269
HLI	rs121918269
Exac	rs121918269
Gnomad	rs121918269
Varsome	rs121918269
LitVar	rs121918269
Map	rs121918269
PheGenI	rs121918269
Biobank	rs121918269
1000 genomes	rs121918269
hgdp	rs121918269
ensembl	rs121918269
geneview	rs121918269
scholar	rs121918269
google	rs121918269
pharmgkb	rs121918269
gwascentral	rs121918269
openSNP	rs121918269
23andMe	rs121918269
SNPshot	rs121918269
SNPdbe	rs121918269
MSV3d	rs121918269
GWAS Ctlg	rs121918269

Max Magnitude

0

OMIM	608667
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918269(T;T)
Alt	rs121918269(T;T)
Reference	Rs121918269(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.37014830C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002232.3,