SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2140278878 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140279248 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140279368 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140279716 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS2140282332 CIROP Health Risk Pathogenic Heterotaxy, visceral
RS2140287827 NR2E3 Health Risk Pathogenic —
RS2140287858 NR2E3 Health Risk Pathogenic —
RS2140288609 THSD4 Health Risk Pathogenic Aortic aneurysm, familial thoracic 12
RS2140288636 NR2E3 Health Risk Pathogenic —
RS2140288751 NR2E3 Health Risk Pathogenic —
RS2140288872 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2140288875 NR2E3 Health Risk Likely pathogenic —
RS2140289140 NR2E3 Health Risk Pathogenic —
RS2140289208 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140289423 NR2E3 Health Risk Pathogenic —
RS2140289475 NR2E3 Health Risk Pathogenic —
RS2140289524 NR2E3 Health Risk Pathogenic —
RS2140290184 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2140291802 CEBPE Health Risk Pathogenic Specific granule deficiency 1, Specific granule deficiency 1
RS2140292116 CEBPE Health Risk Pathogenic Specific granule deficiency 1, Specific granule deficiency 1
RS2140292187 CEBPE Health Risk Pathogenic Specific granule deficiency, Specific granule deficiency
RS2140292375 CEBPE Health Risk Pathogenic Specific granule deficiency, Specific granule deficiency
RS2140293635 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140293906 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140294164 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140294260 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140294762 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140294805 SMAD3 Health Risk Pathogenic/Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140294904 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinal dystrophy
RS2140294988 NR2E3 Health Risk Conflicting classifications of pathogenicity —
RS2140295068 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140295070 SMAD3 Health Risk Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140295151 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2140295512 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140296865 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140296876 SMAD3 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2140297426 TRIP4 Health Risk Likely pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS2140301211 SMAD3 Health Risk Likely pathogenic Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS2140301381 TRIP4 Health Risk Likely pathogenic —
RS2140302103 ACTN1 Health Risk Pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS2140302263 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS2140314073 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140314210 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140314299 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2140314457 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140319419 TTLL5 Health Risk Pathogenic —
RS2140319516 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140319619 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140319638 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140319857 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140319931 MYO1E Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2140319954 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2140320169 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140320568 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140320741 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140320821 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140321846 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140322212 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140322856 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140322934 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140323368 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140323754 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140323765 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS2140323831 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140324174 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140324625 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140324697 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140324712 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140326388 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140326761 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140327860 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140328010 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140328026 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140328050 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140328162 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Squamous cell carcinoma of the head and neck
RS2140328176 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140329051 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140329273 VPS13C Health Risk Pathogenic —
RS2140331365 TTLL5 Health Risk Pathogenic —
RS2140331555 TTLL5 Health Risk Pathogenic —
RS2140342679 ZMYM2 Health Risk Pathogenic —
RS2140342702 MYO1E Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2140344404 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140344619 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140344667 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140344825 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140344855 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2140355061 FRMD5 Health Risk Conflicting classifications of pathogenicity See cases, Neurodevelopmental disorder with eye movement abnormalities and ataxia
RS2140369057 ZMYM2 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2140369593 DLL4 Health Risk Likely pathogenic Adams-Oliver syndrome 6, Adams-Oliver syndrome 6
RS2140371787 OCA2 Health Risk Likely pathogenic —
RS2140372179 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2140372917 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140373111 AAGAB Health Risk Pathogenic —
RS2140377197 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2140377628 IRF2BPL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2140377693 IRF2BPL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2140377845 IRF2BPL Health Risk Likely pathogenic —
RS2140377848 IRF2BPL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2140380826 AAGAB Health Risk Pathogenic —
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