rs80358371

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(CTA;CTA)	0	common in clinvar

Make rs80358371(-;T)

Make rs80358371(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37060964

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs80358371
dbSNP (classic)	rs80358371
ClinGen	rs80358371
ebi	rs80358371
HLI	rs80358371
Exac	rs80358371
Gnomad	rs80358371
Varsome	rs80358371
LitVar	rs80358371
Map	rs80358371
PheGenI	rs80358371
Biobank	rs80358371
1000 genomes	rs80358371
hgdp	rs80358371
ensembl	rs80358371
geneview	rs80358371
scholar	rs80358371
google	rs80358371
pharmgkb	rs80358371
gwascentral	rs80358371
openSNP	rs80358371
23andMe	rs80358371
SNPshot	rs80358371
SNPdbe	rs80358371
MSV3d	rs80358371
GWAS Ctlg	rs80358371

Max Magnitude

0

ClinVar
Risk	rs80358371(T;T)
Alt	rs80358371(T;T)
Reference	Rs80358371(-;-)
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.37061066dupT
CLNSRC	ClinVar
CLNACC	RCV000086393.3,