rs121913145

Orientation

minus

Stabilized

minus

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

Make rs121913145(A;G)

Make rs121913145(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7184583

Gene

INSR

is a	snp
is	mentioned by
dbSNP	rs121913145
dbSNP (classic)	rs121913145
ClinGen	rs121913145
ebi	rs121913145
HLI	rs121913145
Exac	rs121913145
Gnomad	rs121913145
Varsome	rs121913145
LitVar	rs121913145
Map	rs121913145
PheGenI	rs121913145
Biobank	rs121913145
1000 genomes	rs121913145
hgdp	rs121913145
ensembl	rs121913145
geneview	rs121913145
scholar	rs121913145
google	rs121913145
pharmgkb	rs121913145
gwascentral	rs121913145
openSNP	rs121913145
23andMe	rs121913145
SNPshot	rs121913145
SNPdbe	rs121913145
MSV3d	rs121913145
GWAS Ctlg	rs121913145

Max Magnitude

0

OMIM	147670
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121913145(G;G)
Alt	rs121913145(G;G)
Reference	Rs121913145(A;A)
Significance	Pathogenic
Disease	Leprechaunism syndrome
Variation	info
Gene	INSR
CLNDBN	Leprechaunism syndrome
Reversed	1
HGVS	NC_000019.9:g.7184594T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015808.25,