rs587783986

Orientation

plus

Stabilized

plus

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

Make rs587783986(G;T)

Make rs587783986(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37036439

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783986
dbSNP (classic)	rs587783986
ClinGen	rs587783986
ebi	rs587783986
HLI	rs587783986
Exac	rs587783986
Gnomad	rs587783986
Varsome	rs587783986
LitVar	rs587783986
Map	rs587783986
PheGenI	rs587783986
Biobank	rs587783986
1000 genomes	rs587783986
hgdp	rs587783986
ensembl	rs587783986
geneview	rs587783986
scholar	rs587783986
google	rs587783986
pharmgkb	rs587783986
gwascentral	rs587783986
openSNP	rs587783986
23andMe	rs587783986
SNPshot	rs587783986
SNPdbe	rs587783986
MSV3d	rs587783986
GWAS Ctlg	rs587783986

Max Magnitude

0

ClinVar
Risk	rs587783986(T;T)
Alt	rs587783986(T;T)
Reference	Rs587783986(G;G)
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.37036541G>T
CLNSRC
CLNACC	RCV000146657.1,