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
RS2107177965 PROS1 Health Risk Likely pathogenic —
RS2107189610 POC1A Health Risk Pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS2107192097 ARL13B Health Risk Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS2107200636 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2107200789 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2107201024 FOXP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2107201851 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2107202868 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2107202922 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS2107204142 IMPG2 Health Risk Pathogenic —
RS2107204955 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2107207834 IMPG2 Health Risk Likely pathogenic —
RS2107207943 IMPG2 Health Risk Pathogenic —
RS2107207948 IMPG2 Health Risk Pathogenic —
RS2107208049 IMPG2 Health Risk Pathogenic —
RS2107212252 FLNB Health Risk Pathogenic —
RS2107212379 FLNB Health Risk Pathogenic —
RS2107215447 ATRIP Health Risk Pathogenic/Likely pathogenic Seckel syndrome, Microcephalic Primordial Dwarfism with immunodeficiency
RS2107220190 FLNB Health Risk Likely pathogenic Larsen syndrome, Larsen syndrome
RS2107220476 FLNB Health Risk Likely pathogenic —
RS2107222436 IMPG2 Health Risk Likely pathogenic —
RS2107224888 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type I, Atelosteogenesis type I
RS2107224894 FLNB Health Risk Pathogenic Atelosteogenesis type I, Atelosteogenesis type I
RS2107225016 FLNB Health Risk Likely pathogenic —
RS2107225089 FLNB Health Risk Likely pathogenic —
RS2107234582 IMPG2 Health Risk Likely pathogenic —
RS2107250439 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS2107250805 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2107254550 TREX1 Health Risk Pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS2107255387 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS2107255865 TREX1 Health Risk Pathogenic/Likely pathogenic Chilblain lupus 1, Aicardi-Goutieres syndrome 1
RS2107256093 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2107257357 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS2107257487 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS2107258834 TREX1 Health Risk Pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS2107262663 DOCK3 Health Risk Pathogenic —
RS2107263484 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS2107265153 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2107265386 TREX1 Health Risk Likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2107265602 TREX1 Health Risk Likely pathogenic Thrombotic microangiopathy, Thrombotic microangiopathy
RS2107265977 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2107267894 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS2107279030 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS2107279041 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, Protein S deficiency disease
RS2107279275 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2107279407 PROS1 Health Risk Pathogenic Protein S deficiency disease, Protein S deficiency disease
RS2107298337 FOXP1 Health Risk Pathogenic —
RS2107310071 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2107310122 FOXP1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2107316329 FOXP1 Health Risk Pathogenic —
RS2107337553 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107344308 FLNB Health Risk Pathogenic —
RS2107346255 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107373870 DNASE1L3 Health Risk Likely pathogenic Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
RS2107397010 ROBO1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2107413869 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107416290 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107416663 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107437335 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107445568 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107448208 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107453711 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2107478777 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107483632 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2107483736 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2107483975 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107489196 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2107489383 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2107502859 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2107510544 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2107511857 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2107519404 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107519634 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107522179 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2107525795 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526111 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526137 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526347 LMOD3 Health Risk Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526351 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107536775 MITF Health Risk Likely pathogenic —
RS2107536936 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107537021 MITF Health Risk Pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2107537096 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107548853 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2107552061 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107552171 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2107565760 HESX1 Health Risk Pathogenic Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS2107566038 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS2107575654 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107578153 SETD2 Health Risk Pathogenic —
RS2107594330 ROBO1 Health Risk Likely pathogenic —
RS2107600390 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107612882 FOXP1 Health Risk Pathogenic —
RS2107612940 FOXP1 Health Risk Likely pathogenic —
RS2107613139 FOXP1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2107620082 PLXNA1 Health Risk Likely pathogenic Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome
RS2107620759 ROBO1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2107624704 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107624870 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS2107624936 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
« Prev 1 ... 1661 1662 1663 1664 1665 1666 1667 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →