rs587783895

Orientation

plus

Stabilized

plus

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

Make rs587783895(C;C)

Make rs587783895(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

36955613

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783895
dbSNP (classic)	rs587783895
ClinGen	rs587783895
ebi	rs587783895
HLI	rs587783895
Exac	rs587783895
Gnomad	rs587783895
Varsome	rs587783895
LitVar	rs587783895
Map	rs587783895
PheGenI	rs587783895
Biobank	rs587783895
1000 genomes	rs587783895
hgdp	rs587783895
ensembl	rs587783895
geneview	rs587783895
scholar	rs587783895
google	rs587783895
pharmgkb	rs587783895
gwascentral	rs587783895
openSNP	rs587783895
23andMe	rs587783895
SNPshot	rs587783895
SNPdbe	rs587783895
MSV3d	rs587783895
GWAS Ctlg	rs587783895

Max Magnitude

0

ClinVar
Risk	rs587783895(C;C)
Alt	rs587783895(C;C)
Reference	Rs587783895(T;T)
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.36955715T>C
CLNSRC
CLNACC	RCV000146534.1,