rs1042571

minus

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

Make rs1042571(C;T)

Make rs1042571(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

25161018

Gene

POMC

is a	snp
is	mentioned by
dbSNP	rs1042571
dbSNP (classic)	rs1042571
ClinGen	rs1042571
ebi	rs1042571
HLI	rs1042571
Exac	rs1042571
Gnomad	rs1042571
Varsome	rs1042571
LitVar	rs1042571
Map	rs1042571
PheGenI	rs1042571
Biobank	rs1042571
1000 genomes	rs1042571
hgdp	rs1042571
ensembl	rs1042571
geneview	rs1042571
scholar	rs1042571
google	rs1042571
pharmgkb	rs1042571
gwascentral	rs1042571
openSNP	rs1042571
23andMe	rs1042571
SNPshot	rs1042571
SNPdbe	rs1042571
MSV3d	rs1042571
GWAS Ctlg	rs1042571

GMAF

0.1286

Max Magnitude

0

OMIM	605552
Desc	ABDOMINAL OBESITY-METABOLIC SYNDROME
Variant
Related	also

OMIM	176830
Desc	PROOPIOMELANOCORTIN; POMC
Variant
Related	also

[PMID 21723177] Association analysis of proopiomelanocortin (POMC) haplotypes in type 1 diabetes in a UK population

[PMID 21211529] Association study of POMC variants with body composition measures and nutrient choice

[PMID 17357083 ] Medical sequencing at the extremes of human body mass.

[PMID 19217079 ] Pro-opiomelanocortin gene variation related to alcohol or drug dependence: evidence and replications across family- and population-based studies.

[PMID 19384953 ] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

[PMID 24831852 ] The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

ClinVar
Risk	rs1042571(T;T)
Alt	rs1042571(T;T)
Reference	Rs1042571(C;C)
Significance	Probable-non-pathogenic
Disease	Monogenic Non-Syndromic Obesity Proopiomelanocortin deficiency
Variation	info
Gene	POMC
CLNDBN	Monogenic Non-Syndromic Obesity Proopiomelanocortin deficiency
Reversed	1
HGVS	NC_000002.11:g.25383887G>A
CLNSRC
CLNACC	RCV000272308.1, RCV000329597.1,