rs119477055

Orientation

minus

Stabilized

minus

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

Make rs119477055(C;T)

Make rs119477055(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

43048394

Gene

UBR1

is a	snp
is	mentioned by
dbSNP	rs119477055
dbSNP (classic)	rs119477055
ClinGen	rs119477055
ebi	rs119477055
HLI	rs119477055
Exac	rs119477055
Gnomad	rs119477055
Varsome	rs119477055
LitVar	rs119477055
Map	rs119477055
PheGenI	rs119477055
Biobank	rs119477055
1000 genomes	rs119477055
hgdp	rs119477055
ensembl	rs119477055
geneview	rs119477055
scholar	rs119477055
google	rs119477055
pharmgkb	rs119477055
gwascentral	rs119477055
openSNP	rs119477055
23andMe	rs119477055
SNPshot	rs119477055
SNPdbe	rs119477055
MSV3d	rs119477055
GWAS Ctlg	rs119477055

Max Magnitude

0

OMIM	605981
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119477055(T;T)
Alt	rs119477055(T;T)
Reference	Rs119477055(C;C)
Significance	Pathogenic
Disease	Johanson-Blizzard syndrome
Variation	info
Gene	UBR1
CLNDBN	Johanson-Blizzard syndrome
Reversed	1
HGVS	NC_000015.9:g.43340592G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004944.2,