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
RS2538630404 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS2538634781 PHYH Health Risk Pathogenic —
RS2538634829 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538635051 PHYH Health Risk Pathogenic —
RS2538635081 PHYH Health Risk Pathogenic —
RS2538635253 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538635262 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538635317 PHYH Health Risk Likely pathogenic —
RS2538635322 PHYH Health Risk Likely pathogenic —
RS2538636884 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538637096 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538637344 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538639034 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538639222 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538639267 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538640575 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538640589 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
RS2538640687 GRIN1 Health Risk Likely pathogenic GRIN1-related disorder, GRIN1-related disorder
RS2538640700 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538640791 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538640828 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538640861 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538642532 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538642665 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538643445 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538643461 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538643520 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538643559 PHYH Health Risk Pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538647858 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538647926 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538648271 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538649199 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538649259 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538649281 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538649313 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538650601 PHYH Health Risk Pathogenic —
RS2538650629 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538650783 PHYH Health Risk Pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538651561 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538652467 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538652500 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538653013 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538653083 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538653190 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538653415 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538654287 CARD9 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538654464 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2538655091 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538655957 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538656489 PHYH Health Risk Likely pathogenic —
RS2538656659 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538656824 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538658112 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538658265 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538658624 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538658638 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538658686 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538658717 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538659131 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538659178 TSC1 Health Risk Pathogenic —
RS2538660511 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538661360 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS2538662258 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS2538663458 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538663573 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS2538663853 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538664377 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538665084 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2538665254 NR5A1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2538665837 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538669014 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538669304 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538670229 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS2538670275 PHYH Health Risk Pathogenic —
RS2538670981 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538673493 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2538674041 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538674045 NR5A1 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, 46
RS2538674111 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS2538675033 VARS2 Health Risk Likely pathogenic —
RS2538675310 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538676331 NR5A1 Health Risk Likely pathogenic NR5A1-related disorder, NR5A1-related disorder
RS2538676383 NR5A1 Health Risk Likely pathogenic Male infertility, Male infertility
RS2538676471 NR5A1 Health Risk Pathogenic/Likely pathogenic NR5A1-related disorder, NR5A1-related disorder
RS2538676475 NR5A1 Health Risk Likely pathogenic 46, XY disorder of sex development
RS2538677887 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538678370 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538679004 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538681872 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538683535 NR5A1 Health Risk Likely pathogenic 46, XY disorder of sex development
RS2538683556 NR5A1 Health Risk Likely pathogenic —
RS2538683564 NR5A1 Health Risk Pathogenic NR5A1-related disorder, 46
RS2538683847 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538683958 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2538683985 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2538684217 NR5A1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2538684736 NR5A1 Health Risk Likely pathogenic NR5A1-related disorder, NR5A1-related disorder
RS2538684764 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2538685511 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538687051 NR5A1 Health Risk Likely pathogenic Oligosynaptic infertility, 46
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