rs121918216

Orientation

minus

Stabilized

minus

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

Make rs121918216(C;T)

Make rs121918216(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219567787

Gene

OBSL1

is a	snp
is	mentioned by
dbSNP	rs121918216
dbSNP (classic)	rs121918216
ClinGen	rs121918216
ebi	rs121918216
HLI	rs121918216
Exac	rs121918216
Gnomad	rs121918216
Varsome	rs121918216
LitVar	rs121918216
Map	rs121918216
PheGenI	rs121918216
Biobank	rs121918216
1000 genomes	rs121918216
hgdp	rs121918216
ensembl	rs121918216
geneview	rs121918216
scholar	rs121918216
google	rs121918216
pharmgkb	rs121918216
gwascentral	rs121918216
openSNP	rs121918216
23andMe	rs121918216
SNPshot	rs121918216
SNPdbe	rs121918216
MSV3d	rs121918216
GWAS Ctlg	rs121918216

Max Magnitude

0

OMIM	610991
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918216(A;A) rs121918216(T;T)
Alt	rs121918216(A;A) rs121918216(T;T)
Reference	Rs121918216(C;C)
Significance	Pathogenic
Disease	Three M syndrome 2
Variation	info
Gene	OBSL1
CLNDBN	Three M syndrome 2
Reversed	1
HGVS	NC_000002.11:g.220432509G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001104.3,