PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Neuroblastoma ×
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: rs63750306
rs63750306 		0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.050 1.000 5 1998 2013
dbSNP: rs63749805
rs63749805 		0.807 0.120 14 73173577 missense variant C/G;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.030 1.000 3 1998 2001
dbSNP: rs63751163
rs63751163 		0.807 0.120 14 73192844 missense variant T/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 2000 2001
dbSNP: rs1362575880
rs1362575880 		0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs63750646
rs63750646 		0.807 0.120 14 73217147 missense variant G/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs63750852
rs63750852 		0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs63751235
rs63751235 		0.807 0.120 14 73198117 missense variant C/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2001 2001