rs587783938

Orientation

plus

Stabilized

plus

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

Make rs587783938(A;A)

Make rs587783938(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37006518

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783938
dbSNP (classic)	rs587783938
ClinGen	rs587783938
ebi	rs587783938
HLI	rs587783938
Exac	rs587783938
Gnomad	rs587783938
Varsome	rs587783938
LitVar	rs587783938
Map	rs587783938
PheGenI	rs587783938
Biobank	rs587783938
1000 genomes	rs587783938
hgdp	rs587783938
ensembl	rs587783938
geneview	rs587783938
scholar	rs587783938
google	rs587783938
pharmgkb	rs587783938
gwascentral	rs587783938
openSNP	rs587783938
23andMe	rs587783938
SNPshot	rs587783938
SNPdbe	rs587783938
MSV3d	rs587783938
GWAS Ctlg	rs587783938

Max Magnitude

0

ClinVar
Risk	rs587783938(A;A)
Alt	rs587783938(A;A)
Reference	Rs587783938(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.37006620C>A
CLNSRC
CLNACC	RCV000146597.1,