Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894658
rs104894658
MC2R
0.925 0.120 18 13885298 missense variant C/A snv 1.9E-04 3.2E-04
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs104894660
rs104894660
MC2R
0.925 0.120 18 13885110 missense variant G/A;T snv 6.0E-05; 2.0E-05
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs1208417750
rs1208417750
MC2R
1.000 18 13885109 missense variant C/G;T snv 4.0E-06 4.2E-05
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs1226345778
rs1226345778
MC2R
1.000 18 13884885 frameshift variant T/- del 2.1E-05
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs139218324
rs139218324
MC2R
1.000 18 13885086 missense variant G/A;T snv 4.0E-06 3.5E-05
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs1555619406
rs1555619406
MC2R
1.000 18 13884959 frameshift variant A/- del
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs1555619429
rs1555619429
MC2R
1.000 18 13885054 missense variant C/G snv
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs1555619430
rs1555619430
MC2R
0.925 0.120 18 13885059 frameshift variant -/G delins
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0
dbSNP: rs762692123
rs762692123
MC2R
1.000 18 13884946 stop gained G/A;T snv 4.0E-06
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		0.700 0