rs387907213

Orientation

minus

Stabilized

minus

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

Make rs387907213(C;C)

Make rs387907213(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

116847643

Gene

RAD21

is a	snp
is	mentioned by
dbSNP	rs387907213
dbSNP (classic)	rs387907213
ClinGen	rs387907213
ebi	rs387907213
HLI	rs387907213
Exac	rs387907213
Gnomad	rs387907213
Varsome	rs387907213
LitVar	rs387907213
Map	rs387907213
PheGenI	rs387907213
Biobank	rs387907213
1000 genomes	rs387907213
hgdp	rs387907213
ensembl	rs387907213
geneview	rs387907213
scholar	rs387907213
google	rs387907213
pharmgkb	rs387907213
gwascentral	rs387907213
openSNP	rs387907213
23andMe	rs387907213
SNPshot	rs387907213
SNPdbe	rs387907213
MSV3d	rs387907213
GWAS Ctlg	rs387907213

Max Magnitude

0

ClinVar
Risk	rs387907213(C;C)
Alt	rs387907213(C;C)
Reference	Rs387907213(T;T)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 4
Variation	info
Gene	RAD21
CLNDBN	Cornelia de Lange syndrome 4
Reversed	1
HGVS	NC_000008.10:g.117859882A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029139.3,