PARP1, poly(ADP-ribose) polymerase 1, 142

N. diseases: 565; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3219090
rs3219090
1.000 0.040 1 226376990 intron variant T/C snv 0.58
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.820 1.000 2 2011 2013
dbSNP: rs1136410
rs1136410
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs3219125
rs3219125
1.000 0.040 1 226367250 non coding transcript exon variant T/C snv 5.0E-02
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2011 2011