rs121913158

Orientation

minus

Stabilized

minus

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

Make rs121913158(C;C)

Make rs121913158(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7170704

Gene

INSR

is a	snp
is	mentioned by
dbSNP	rs121913158
dbSNP (classic)	rs121913158
ClinGen	rs121913158
ebi	rs121913158
HLI	rs121913158
Exac	rs121913158
Gnomad	rs121913158
Varsome	rs121913158
LitVar	rs121913158
Map	rs121913158
PheGenI	rs121913158
Biobank	rs121913158
1000 genomes	rs121913158
hgdp	rs121913158
ensembl	rs121913158
geneview	rs121913158
scholar	rs121913158
google	rs121913158
pharmgkb	rs121913158
gwascentral	rs121913158
openSNP	rs121913158
23andMe	rs121913158
SNPshot	rs121913158
SNPdbe	rs121913158
MSV3d	rs121913158
GWAS Ctlg	rs121913158

Max Magnitude

0

OMIM	147670
Desc
Variant	0032
Related	also

ClinVar
Risk	rs121913158(C;C)
Alt	rs121913158(C;C)
Reference	Rs121913158(G;G)
Significance	Pathogenic
Disease	Leprechaunism syndrome
Variation	info
Gene	INSR
CLNDBN	Leprechaunism syndrome
Reversed	1
HGVS	NC_000019.9:g.7170715C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015825.29,