rs587783971

Orientation

plus

Stabilized

plus

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

Make rs587783971(C;T)

Make rs587783971(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37022057

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783971
dbSNP (classic)	rs587783971
ClinGen	rs587783971
ebi	rs587783971
HLI	rs587783971
Exac	rs587783971
Gnomad	rs587783971
Varsome	rs587783971
LitVar	rs587783971
Map	rs587783971
PheGenI	rs587783971
Biobank	rs587783971
1000 genomes	rs587783971
hgdp	rs587783971
ensembl	rs587783971
geneview	rs587783971
scholar	rs587783971
google	rs587783971
pharmgkb	rs587783971
gwascentral	rs587783971
openSNP	rs587783971
23andMe	rs587783971
SNPshot	rs587783971
SNPdbe	rs587783971
MSV3d	rs587783971
GWAS Ctlg	rs587783971

Max Magnitude

0

ClinVar
Risk	rs587783971(T;T)
Alt	rs587783971(T;T)
Reference	Rs587783971(C;C)
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.37022159C>T
CLNSRC
CLNACC	RCV000146638.1,