rs387907271

Orientation

plus

Stabilized

plus

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

Make rs387907271(A;G)

Make rs387907271(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

26420695

Gene

RBPJ

is a	snp
is	mentioned by
dbSNP	rs387907271
dbSNP (classic)	rs387907271
ClinGen	rs387907271
ebi	rs387907271
HLI	rs387907271
Exac	rs387907271
Gnomad	rs387907271
Varsome	rs387907271
LitVar	rs387907271
Map	rs387907271
PheGenI	rs387907271
Biobank	rs387907271
1000 genomes	rs387907271
hgdp	rs387907271
ensembl	rs387907271
geneview	rs387907271
scholar	rs387907271
google	rs387907271
pharmgkb	rs387907271
gwascentral	rs387907271
openSNP	rs387907271
23andMe	rs387907271
SNPshot	rs387907271
SNPdbe	rs387907271
MSV3d	rs387907271
GWAS Ctlg	rs387907271

Max Magnitude

0

ClinVar
Risk	rs387907271(G;G)
Alt	rs387907271(G;G)
Reference	Rs387907271(A;A)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 3
Variation	info
Gene	RBPJ
CLNDBN	Adams-Oliver syndrome 3
Reversed	0
HGVS	NC_000004.11:g.26422317A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030708.25,