rs2186944

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs2186944(A;A)

Make rs2186944(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

13915543

Gene

MC2R

is a	snp
is	mentioned by
dbSNP	rs2186944
dbSNP (classic)	rs2186944
ClinGen	rs2186944
ebi	rs2186944
HLI	rs2186944
Exac	rs2186944
Gnomad	rs2186944
Varsome	rs2186944
LitVar	rs2186944
Map	rs2186944
PheGenI	rs2186944
Biobank	rs2186944
1000 genomes	rs2186944
hgdp	rs2186944
ensembl	rs2186944
geneview	rs2186944
scholar	rs2186944
google	rs2186944
pharmgkb	rs2186944
gwascentral	rs2186944
openSNP	rs2186944
23andMe	rs2186944
SNPshot	rs2186944
SNPdbe	rs2186944
MSV3d	rs2186944
GWAS Ctlg	rs2186944

GMAF

0.07622

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 19024088] rs1893220 and rs2186944 efficacy of ACTH therapy on infantile spasms.

[PMID 20042918] ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH

[PMID 18359160] Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction.

ClinVar
Risk	rs2186944(A;A)
Alt	rs2186944(A;A)
Reference	Rs2186944(G;G)
Significance	Probable-non-pathogenic
Disease	Glucocorticoid Deficiency
Variation	info
Gene	MC2R
CLNDBN	Glucocorticoid Deficiency
Reversed	0
HGVS	NC_000018.9:g.13915542G>A
CLNSRC
CLNACC	RCV000307089.1,