rs104894662

Orientation

minus

Stabilized

minus

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

Make rs104894662(G;T)

Make rs104894662(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

13884767

Gene

MC2R

is a	snp
is	mentioned by
dbSNP	rs104894662
dbSNP (classic)	rs104894662
ClinGen	rs104894662
ebi	rs104894662
HLI	rs104894662
Exac	rs104894662
Gnomad	rs104894662
Varsome	rs104894662
LitVar	rs104894662
Map	rs104894662
PheGenI	rs104894662
Biobank	rs104894662
1000 genomes	rs104894662
hgdp	rs104894662
ensembl	rs104894662
geneview	rs104894662
scholar	rs104894662
google	rs104894662
pharmgkb	rs104894662
gwascentral	rs104894662
openSNP	rs104894662
23andMe	rs104894662
SNPshot	rs104894662
SNPdbe	rs104894662
MSV3d	rs104894662
GWAS Ctlg	rs104894662

Max Magnitude

0

OMIM	607397
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894662(A;A) rs104894662(C;C) rs104894662(T;T)
Alt	rs104894662(A;A) rs104894662(C;C) rs104894662(T;T)
Reference	Rs104894662(G;G)
Significance	Pathogenic
Disease	ACTH resistance
Variation	info
Gene	MC2R
CLNDBN	ACTH resistance
Reversed	1
HGVS	NC_000018.9:g.13884766C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003420.4,