rs121918266

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAT;AAT)	0	common in clinvar
(ATA;ATA)	0	common in clinvar

Make rs121918266(-;-)

Make rs121918266(-;ATA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37001030

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs121918266
dbSNP (classic)	rs121918266
ClinGen	rs121918266
ebi	rs121918266
HLI	rs121918266
Exac	rs121918266
Gnomad	rs121918266
Varsome	rs121918266
LitVar	rs121918266
Map	rs121918266
PheGenI	rs121918266
Biobank	rs121918266
1000 genomes	rs121918266
hgdp	rs121918266
ensembl	rs121918266
geneview	rs121918266
scholar	rs121918266
google	rs121918266
pharmgkb	rs121918266
gwascentral	rs121918266
openSNP	rs121918266
23andMe	rs121918266
SNPshot	rs121918266
SNPdbe	rs121918266
MSV3d	rs121918266
GWAS Ctlg	rs121918266

Max Magnitude

0

OMIM	608667
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918266(-;-)
Alt	rs121918266(-;-)
Reference	Rs121918266(AAT;AAT)
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.37001132_37001134delATA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002226.2,