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: rs112241539
rs112241539
CASTOR3
7 100249614 intron variant C/T snv 0.16
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs117038461
rs117038461
CASTOR3
1.000 0.040 7 100243731 intron variant C/T snv 1.5E-02
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs117430166
rs117430166
CASTOR3 ; LOC107986828
7 100229908 intron variant C/T snv 3.3E-02
CUI: C0201983
Disease: Dehydroepiandrosterone sulfate measurement (procedure)
Dehydroepiandrosterone sulfate measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs17250196
rs17250196
STAG3 ; PVRIG ; CASTOR3
7 100219573 3 prime UTR variant G/A;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs17250196
rs17250196
STAG3 ; PVRIG ; CASTOR3
7 100219573 3 prime UTR variant G/A;T snv
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4727449
rs4727449
STAG3 ; CASTOR3
1.000 0.080 7 100188127 intron variant C/T snv 0.11
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2019 2019
dbSNP: rs858502
rs858502
CASTOR3
1.000 0.080 7 100245730 intron variant T/C snv 0.50
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs866500
rs866500
CASTOR3
1.000 0.080 7 100242838 intron variant A/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs376787666
rs376787666
STAG3 ; CASTOR3
1.000 7 100199372 splice region variant G/A snv 1.2E-05 1.4E-05
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs587777267
rs587777267
STAG3 ; CASTOR3
1.000 7 100188862 frameshift variant C/- delins
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs764841861
rs764841861
STAG3 ; CASTOR3
0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C0021361
Disease: Female infertility
Female infertility 		0.700 0
dbSNP: rs764841861
rs764841861
STAG3 ; CASTOR3
0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.700 0
dbSNP: rs764841861
rs764841861
STAG3 ; CASTOR3
0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary 		0.700 0
dbSNP: rs869320765
rs869320765
STAG3 ; CASTOR3
1.000 7 100200852 frameshift variant -/CT delins
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs1052482
rs1052482
STAG3 ; CASTOR3
1.000 0.040 7 100214213 3 prime UTR variant A/T snv 0.69
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 1.000 1 2020 2020
dbSNP: rs1161498711
rs1161498711
STAG3 ; CASTOR3
7 100198492 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2019 2019
dbSNP: rs1727130
rs1727130
STAG3 ; CASTOR3
1.000 0.040 7 100213841 intron variant C/G;T snv 0.67; 1.6E-05
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 1.000 1 2020 2020
dbSNP: rs751680143
rs751680143
STAG3 ; CASTOR3
7 100198542 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2019 2019