rs398123022

Orientation

plus

Stabilized

plus

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

Make rs398123022(A;G)

Make rs398123022(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109489917

Gene

UBE3B

is a	snp
is	mentioned by
dbSNP	rs398123022
dbSNP (classic)	rs398123022
ClinGen	rs398123022
ebi	rs398123022
HLI	rs398123022
Exac	rs398123022
Gnomad	rs398123022
Varsome	rs398123022
LitVar	rs398123022
Map	rs398123022
PheGenI	rs398123022
Biobank	rs398123022
1000 genomes	rs398123022
hgdp	rs398123022
ensembl	rs398123022
geneview	rs398123022
scholar	rs398123022
google	rs398123022
pharmgkb	rs398123022
gwascentral	rs398123022
openSNP	rs398123022
23andMe	rs398123022
SNPshot	rs398123022
SNPdbe	rs398123022
MSV3d	rs398123022
GWAS Ctlg	rs398123022

Max Magnitude

0

ClinVar
Risk	rs398123022(G;G)
Alt	rs398123022(G;G)
Reference	Rs398123022(A;A)
Significance	Pathogenic
Disease	Kaufman oculocerebrofacial syndrome
Variation	info
Gene	UBE3B
CLNDBN	Kaufman oculocerebrofacial syndrome
Reversed	0
HGVS	NC_000012.11:g.109927722A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043489.6,