rs587783893

Orientation

plus

Stabilized

plus

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

Make rs587783893(-;-)

Make rs587783893(-;TAGCCTCAACCA)

Make rs587783893(TAGCCTCAACCA;TAGCCTCAACCA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36955608

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783893
dbSNP (classic)	rs587783893
ClinGen	rs587783893
ebi	rs587783893
HLI	rs587783893
Exac	rs587783893
Gnomad	rs587783893
Varsome	rs587783893
LitVar	rs587783893
Map	rs587783893
PheGenI	rs587783893
Biobank	rs587783893
1000 genomes	rs587783893
hgdp	rs587783893
ensembl	rs587783893
geneview	rs587783893
scholar	rs587783893
google	rs587783893
pharmgkb	rs587783893
gwascentral	rs587783893
openSNP	rs587783893
23andMe	rs587783893
SNPshot	rs587783893
SNPdbe	rs587783893
MSV3d	rs587783893
GWAS Ctlg	rs587783893

Max Magnitude

0

ClinVar
Risk	rs587783893(-;-)
Alt	rs587783893(-;-)
Reference	Rs587783893(CCATAGCCTCAA;CCATAGCCTCAA)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.36955710_36955721delTAGCCTCAACCA
CLNSRC
CLNACC	RCV000146531.1,