rs587783936

Orientation

plus

Stabilized

plus

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

Make rs587783936(G;T)

Make rs587783936(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37006375

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783936
dbSNP (classic)	rs587783936
ClinGen	rs587783936
ebi	rs587783936
HLI	rs587783936
Exac	rs587783936
Gnomad	rs587783936
Varsome	rs587783936
LitVar	rs587783936
Map	rs587783936
PheGenI	rs587783936
Biobank	rs587783936
1000 genomes	rs587783936
hgdp	rs587783936
ensembl	rs587783936
geneview	rs587783936
scholar	rs587783936
google	rs587783936
pharmgkb	rs587783936
gwascentral	rs587783936
openSNP	rs587783936
23andMe	rs587783936
SNPshot	rs587783936
SNPdbe	rs587783936
MSV3d	rs587783936
GWAS Ctlg	rs587783936

Max Magnitude

0

ClinVar
Risk	rs587783936(T;T)
Alt	rs587783936(T;T)
Reference	Rs587783936(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.37006477G>T
CLNSRC
CLNACC	RCV000146595.1,