Source: ALL
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: rs1802127
rs1802127 		6 31762148 missense variant C/T snv 3.0E-02 5.1E-02
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		0.700 1.000 1 2019 2019
dbSNP: rs28399987
rs28399987 		1.000 0.080 6 31762974 3 prime UTR variant G/A snv 6.5E-03
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs707938
rs707938 		6 31761582 synonymous variant A/G snv 0.38 0.44
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs707938
rs707938 		6 31761582 synonymous variant A/G snv 0.38 0.44
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs707938
rs707938 		6 31761582 synonymous variant A/G snv 0.38 0.44
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs752657544
rs752657544 		1.000 6 31761541 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C4479510
Disease: PREMATURE OVARIAN FAILURE 13
PREMATURE OVARIAN FAILURE 13 		0.700 0