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: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1848795
Disease: GRAVES DISEASE, SUSCEPTIBILITY TO, 1
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0008031
Disease: Chest Pain
Chest Pain 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		0.700 0