rs587783994

Orientation

plus

Stabilized

plus

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

Make rs587783994(G;T)

Make rs587783994(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37038739

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783994
dbSNP (classic)	rs587783994
ClinGen	rs587783994
ebi	rs587783994
HLI	rs587783994
Exac	rs587783994
Gnomad	rs587783994
Varsome	rs587783994
LitVar	rs587783994
Map	rs587783994
PheGenI	rs587783994
Biobank	rs587783994
1000 genomes	rs587783994
hgdp	rs587783994
ensembl	rs587783994
geneview	rs587783994
scholar	rs587783994
google	rs587783994
pharmgkb	rs587783994
gwascentral	rs587783994
openSNP	rs587783994
23andMe	rs587783994
SNPshot	rs587783994
SNPdbe	rs587783994
MSV3d	rs587783994
GWAS Ctlg	rs587783994

Max Magnitude

0

ClinVar
Risk	rs587783994(C;C) rs587783994(T;T)
Alt	rs587783994(C;C) rs587783994(T;T)
Reference	Rs587783994(G;G)
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.37038841G>C; NC_000005.9:g.37038841G>T
CLNSRC
CLNACC	RCV000177818.1, RCV000146667.1,