rs121913143

Orientation

minus

Stabilized

minus

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

Make rs121913143(A;A)

Make rs121913143(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7267871

Gene

INSR

is a	snp
is	mentioned by
dbSNP	rs121913143
dbSNP (classic)	rs121913143
ClinGen	rs121913143
ebi	rs121913143
HLI	rs121913143
Exac	rs121913143
Gnomad	rs121913143
Varsome	rs121913143
LitVar	rs121913143
Map	rs121913143
PheGenI	rs121913143
Biobank	rs121913143
1000 genomes	rs121913143
hgdp	rs121913143
ensembl	rs121913143
geneview	rs121913143
scholar	rs121913143
google	rs121913143
pharmgkb	rs121913143
gwascentral	rs121913143
openSNP	rs121913143
23andMe	rs121913143
SNPshot	rs121913143
SNPdbe	rs121913143
MSV3d	rs121913143
GWAS Ctlg	rs121913143

Max Magnitude

0

OMIM	147670
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121913143(A;A)
Alt	rs121913143(A;A)
Reference	Rs121913143(C;C)
Significance	Pathogenic
Disease	Pineal hyperplasia AND diabetes mellitus syndrome
Variation	info
Gene	INSR
CLNDBN	Pineal hyperplasia AND diabetes mellitus syndrome
Reversed	1
HGVS	NC_000019.9:g.7267882G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015806.29,