rs587783973

Orientation

plus

Stabilized

plus

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

Make rs587783973(-;-)

Make rs587783973(-;TCTG)

Make rs587783973(TCTG;TCTG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37022111

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783973
dbSNP (classic)	rs587783973
ClinGen	rs587783973
ebi	rs587783973
HLI	rs587783973
Exac	rs587783973
Gnomad	rs587783973
Varsome	rs587783973
LitVar	rs587783973
Map	rs587783973
PheGenI	rs587783973
Biobank	rs587783973
1000 genomes	rs587783973
hgdp	rs587783973
ensembl	rs587783973
geneview	rs587783973
scholar	rs587783973
google	rs587783973
pharmgkb	rs587783973
gwascentral	rs587783973
openSNP	rs587783973
23andMe	rs587783973
SNPshot	rs587783973
SNPdbe	rs587783973
MSV3d	rs587783973
GWAS Ctlg	rs587783973

Max Magnitude

0

ClinVar
Risk	rs587783973(-;-)
Alt	rs587783973(-;-)
Reference	Rs587783973(TGTC;TGTC)
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.37022213_37022216delTCTG
CLNSRC
CLNACC	RCV000146642.1,