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: rs1554603293
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.700 0
dbSNP: rs1555565774
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.700 0