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: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.700 1.000 1 2017 2017
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.700 1.000 1 2016 2016
dbSNP: rs1554496813
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.700 0