Source: CLINVAR

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: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C1834750
Disease: CORONARY ARTERY DISEASE, MODIFIER OF
CORONARY ARTERY DISEASE, MODIFIER OF 		0.700 0
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C1834751
Disease: CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV
CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV 		0.700 0
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C4016263
Disease: SPINA BIFIDA, SUSCEPTIBILITY TO
SPINA BIFIDA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs11594656
rs11594656 		0.776 0.240 10 6080046 intergenic variant T/A snv 0.18
CUI: C1866040
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 10
DIABETES MELLITUS, INSULIN-DEPENDENT, 10 		0.700 0
dbSNP: rs12821256
rs12821256 		12 88934558 TF binding site variant T/A;C;G snv
CUI: C2674081
Disease: Skin/Hair/Eye Pigmentation, Variation In, 7
Skin/Hair/Eye Pigmentation, Variation In, 7 		0.700 0
dbSNP: rs1554264612
rs1554264612 		1.000 0.080 6 99593030 downstream gene variant G/T snv
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		0.700 0
dbSNP: rs1554264613
rs1554264613 		1.000 0.080 6 99593111 downstream gene variant G/C snv
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		0.700 0
dbSNP: rs1554264616
rs1554264616 		1.000 0.080 6 99593164 downstream gene variant C/T snv
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		0.700 0
dbSNP: rs1557787212
rs1557787212 		1.000 0.120 1 17157671 intergenic variant G/T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 0
dbSNP: rs1567518954
rs1567518954 		1.000 0.120 16 86072089 regulatory region variant -/TGTCGCCACTGCTATGATTAAAGCTGGGGAAGCTGGACTT delins
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.700 0
dbSNP: rs183130
rs183130 		16 56957451 upstream gene variant C/T snv 0.29
CUI: C3149463
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10 		0.700 0
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C0278252
Disease: Prognosis bad
Prognosis bad 		0.700 0
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs35705950
rs35705950 		0.763 0.240 11 1219991 splice region variant G/A;T snv
CUI: C4016689
Disease: PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3788853
rs3788853 		X 129736814 upstream gene variant C/A snv 0.22
CUI: C3806711
Disease: ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3843763
rs3843763 		20 45919554 intergenic variant C/T snv 0.29
CUI: C1969386
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9 		0.700 0
dbSNP: rs398652
rs398652 		0.752 0.240 14 56058851 intergenic variant G/A snv 0.24
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		0.700 0
dbSNP: rs41295061
rs41295061 		0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02
CUI: C1866040
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 10
DIABETES MELLITUS, INSULIN-DEPENDENT, 10 		0.700 0
dbSNP: rs483352872
rs483352872 		1.000 7 62535490 intergenic variant A/G snv
CUI: C4722273
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 		0.700 0
dbSNP: rs606231411
rs606231411 		1.000 0.120 3 87310484 intergenic variant C/T snv
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 0
dbSNP: rs61199332
rs61199332 		1.000 0.080 8 11573132 upstream gene variant C/T snv 6.2E-02
CUI: C3150618
Disease: Maturity-onset diabetes of the young, type 11
Maturity-onset diabetes of the young, type 11 		0.700 0
dbSNP: rs642742
rs642742 		12 88905969 intergenic variant C/T snv 0.37
CUI: C2674081
Disease: Skin/Hair/Eye Pigmentation, Variation In, 7
Skin/Hair/Eye Pigmentation, Variation In, 7 		0.700 0
dbSNP: rs727505368
rs727505368 		12 37253847 intergenic variant G/C;T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs751959430
rs751959430 		1.000 0.200 6 50167918 intron variant G/A snv 3.3E-04
CUI: C0268448
Disease: Primary hypomagnesemia (disorder)
Primary hypomagnesemia (disorder) 		0.700 0