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: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 1.000 5 1995 2013
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.710 1.000 0 2001 2001
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0