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: rs121918655
rs121918655
0.851 0.200 9 124493143 missense variant C/T snv
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs104894118
rs104894118
0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2000 2016
dbSNP: rs104894119
rs104894119
0.807 0.160 9 124500685 missense variant C/T snv
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2000 2016
dbSNP: rs200749741
rs200749741
0.925 0.080 9 124500574 missense variant G/A snv 2.3E-04 9.3E-04
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121918656
rs121918656
0.925 0.160 9 124503393 start lost C/T snv
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs200163795
rs200163795
0.925 0.080 9 124500592 missense variant C/G;T snv 2.3E-04; 4.1E-06
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs606231206
rs606231206
0.925 0.160 9 124500294 frameshift variant G/- del
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs606231207
rs606231207
0.925 0.160 9 124500570 frameshift variant C/- del
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs606231208
rs606231208
1.000 0.080 9 124500261 splice acceptor variant CAGCTGCAG/- delins
PREMATURE OVARIAN FAILURE 7 (disorder)
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0