rs587783925

Orientation

plus

Stabilized

plus

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

Make rs587783925(-;-)

Make rs587783925(-;GAAAA)

Make rs587783925(GAAAA;GAAAA)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

37000840

Gene

NIPBL

is a	snp
is	mentioned by
dbSNP	rs587783925
dbSNP (classic)	rs587783925
ClinGen	rs587783925
ebi	rs587783925
HLI	rs587783925
Exac	rs587783925
Gnomad	rs587783925
Varsome	rs587783925
LitVar	rs587783925
Map	rs587783925
PheGenI	rs587783925
Biobank	rs587783925
1000 genomes	rs587783925
hgdp	rs587783925
ensembl	rs587783925
geneview	rs587783925
scholar	rs587783925
google	rs587783925
pharmgkb	rs587783925
gwascentral	rs587783925
openSNP	rs587783925
23andMe	rs587783925
SNPshot	rs587783925
SNPdbe	rs587783925
MSV3d	rs587783925
GWAS Ctlg	rs587783925

Max Magnitude

0

ClinVar
Risk	rs587783925(-;-)
Alt	rs587783925(-;-)
Reference	Rs587783925(AAAAG;AAAAG)
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.37000942_37000946delGAAAA
CLNSRC
CLNACC	RCV000146579.1,