rs398124474

Orientation

plus

Stabilized

plus

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

Make rs398124474(C;T)

Make rs398124474(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

37064854

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs398124474
dbSNP (classic)	rs398124474
ClinGen	rs398124474
ebi	rs398124474
HLI	rs398124474
Exac	rs398124474
Gnomad	rs398124474
Varsome	rs398124474
LitVar	rs398124474
Map	rs398124474
PheGenI	rs398124474
Biobank	rs398124474
1000 genomes	rs398124474
hgdp	rs398124474
ensembl	rs398124474
geneview	rs398124474
scholar	rs398124474
google	rs398124474
pharmgkb	rs398124474
gwascentral	rs398124474
openSNP	rs398124474
23andMe	rs398124474
SNPshot	rs398124474
SNPdbe	rs398124474
MSV3d	rs398124474
GWAS Ctlg	rs398124474

Max Magnitude

0

ClinVar
Risk	rs398124474(T;T)
Alt	rs398124474(T;T)
Reference	Rs398124474(C;C)
Significance	Pathogenic
Disease	not provided Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	not provided Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37064956C>T
CLNSRC	HGMD
CLNACC	RCV000082504.3, RCV000146743.2,