rs28940892

Orientation

minus

Stabilized

minus

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

Make rs28940892(A;G)

Make rs28940892(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

13884758

Gene

MC2R

is a	snp
is	mentioned by
dbSNP	rs28940892
dbSNP (classic)	rs28940892
ClinGen	rs28940892
ebi	rs28940892
HLI	rs28940892
Exac	rs28940892
Gnomad	rs28940892
Varsome	rs28940892
LitVar	rs28940892
Map	rs28940892
PheGenI	rs28940892
Biobank	rs28940892
1000 genomes	rs28940892
hgdp	rs28940892
ensembl	rs28940892
geneview	rs28940892
scholar	rs28940892
google	rs28940892
pharmgkb	rs28940892
gwascentral	rs28940892
openSNP	rs28940892
23andMe	rs28940892
SNPshot	rs28940892
SNPdbe	rs28940892
MSV3d	rs28940892
GWAS Ctlg	rs28940892

Max Magnitude

0

OMIM	607397
Desc	GLUCOCORTICOID DEFICIENCY 1
Variant	0009
Related	also

ClinVar
Risk	rs28940892(G;G)
Alt	rs28940892(G;G)
Reference	Rs28940892(A;A)
Significance	Pathogenic
Disease	ACTH resistance
Variation	info
Gene	MC2R
CLNDBN	ACTH resistance
Reversed	1
HGVS	NC_000018.9:g.13884757T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003422.3,