rs121913136

Orientation

minus

Stabilized

minus

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

Make rs121913136(A;G)

Make rs121913136(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7170561

Gene

INSR

is a	snp
is	mentioned by
dbSNP	rs121913136
dbSNP (classic)	rs121913136
ClinGen	rs121913136
ebi	rs121913136
HLI	rs121913136
Exac	rs121913136
Gnomad	rs121913136
Varsome	rs121913136
LitVar	rs121913136
Map	rs121913136
PheGenI	rs121913136
Biobank	rs121913136
1000 genomes	rs121913136
hgdp	rs121913136
ensembl	rs121913136
geneview	rs121913136
scholar	rs121913136
google	rs121913136
pharmgkb	rs121913136
gwascentral	rs121913136
openSNP	rs121913136
23andMe	rs121913136
SNPshot	rs121913136
SNPdbe	rs121913136
MSV3d	rs121913136
GWAS Ctlg	rs121913136

Merged from

Rs28933083

Max Magnitude

0

OMIM	147670
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913136(G;G)
Alt	rs121913136(G;G)
Reference	Rs121913136(A;A)
Significance	Pathogenic
Disease	Leprechaunism syndrome
Variation	info
Gene	INSR
CLNDBN	Leprechaunism syndrome
Reversed	1
HGVS	NC_000019.9:g.7170572T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015794.29,