rs121434385

Orientation

minus

Stabilized

minus

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

Make rs121434385(C;C)

Make rs121434385(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

91022161

Gene	LOC101926911, VPS33B

is a	snp
is	mentioned by
dbSNP	rs121434385
dbSNP (classic)	rs121434385
ClinGen	rs121434385
ebi	rs121434385
HLI	rs121434385
Exac	rs121434385
Gnomad	rs121434385
Varsome	rs121434385
LitVar	rs121434385
Map	rs121434385
PheGenI	rs121434385
Biobank	rs121434385
1000 genomes	rs121434385
hgdp	rs121434385
ensembl	rs121434385
geneview	rs121434385
scholar	rs121434385
google	rs121434385
pharmgkb	rs121434385
gwascentral	rs121434385
openSNP	rs121434385
23andMe	rs121434385
SNPshot	rs121434385
SNPdbe	rs121434385
MSV3d	rs121434385
GWAS Ctlg	rs121434385

Max Magnitude

0

OMIM	608552
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434385(C;C)
Alt	rs121434385(C;C)
Reference	Rs121434385(T;T)
Significance	Pathogenic
Disease	Arthrogryposis renal dysfunction cholestasis syndrome
Variation	info
Gene	LOC101926911 VPS33B
CLNDBN	Arthrogryposis renal dysfunction cholestasis syndrome
Reversed	1
HGVS	NC_000015.9:g.91565391A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002287.5,