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: rs1554653956
rs1554653956
CDKN2A
1.000 0.120 9 21971004 frameshift variant CCAGGTCCACGGGCAG/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 11 1995 2016