Source: UNIPROT

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: rs11544803
rs11544803
GDF9 ; UQCRQ
1.000 5 132867015 missense variant C/T snv 4.0E-06
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.800 0
dbSNP: rs1205723048
rs1205723048
GDF9
0.882 0.080 5 132862308 missense variant C/T snv 4.0E-06
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.700 1.000 7 2006 2018
dbSNP: rs138136756
rs138136756
GDF9
0.882 0.080 5 132864365 missense variant C/A snv 1.8E-03 5.3E-04
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.700 1.000 7 2006 2018
dbSNP: rs76349024
rs76349024
GDF9
0.925 0.080 5 132862518 missense variant G/A snv 3.4E-04 1.7E-04
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.700 1.000 7 2006 2018
dbSNP: rs118080183
rs118080183
GDF9
1.000 5 132861671 missense variant C/G snv 2.6E-04 9.8E-05
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.700 0
dbSNP: rs61754583
rs61754583
GDF9
1.000 5 132864227 missense variant G/A;T snv 2.8E-03; 4.0E-06
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.700 0