Source: ALL

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: rs11031006
rs11031006
LOC105376607
0.882 0.120 11 30204981 intron variant G/A snv 0.11
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 1.000 1 2019 2019
dbSNP: rs16991615
rs16991615
MCM8
0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 1.000 1 2019 2019
dbSNP: rs72709458
rs72709458
TERT
0.882 0.040 5 1283640 intron variant C/A;T snv
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 1.000 1 2019 2019
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 0