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
RS387907044 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS387907045 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS387907046 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS387907047 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS387907048 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS387907049 HEPACAM Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS387907050 HEPACAM Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS387907051 HEPACAM Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS387907052 HEPACAM Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS387907053 HEPACAM Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting
RS387907054 HEPACAM Health Risk Likely pathogenic MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING
RS387907055 HEPACAM Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting
RS387907056 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS387907057 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS387907058 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9/15, digenic
RS387907059 TTC21B Health Risk Pathogenic Nephronophthisis 12, Nephronophthisis 12
RS387907060 TTC21B Health Risk Pathogenic Asphyxiating thoracic dystrophy 4, Asphyxiating thoracic dystrophy 4
RS387907061 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS387907062 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS387907063 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS387907064 ADAMTSL2 Health Risk Likely pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS387907065 ADAMTSL2 Health Risk Pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS387907066 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS387907067 SLC29A3 Health Risk Pathogenic/Likely pathogenic H syndrome, SLC29A3-related disorder
RS387907068 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS387907069 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS387907070 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS387907071 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS387907072 MEGF10 Health Risk Pathogenic/Likely pathogenic MEGF10-related myopathy, Congenital myopathy 10b
RS387907073 MEGF10 Health Risk Pathogenic Congenital myopathy 10b, mild variant
RS387907075 COLEC11 Health Risk Pathogenic 3MC syndrome 2, 3MC syndrome 2
RS387907076 COLEC11 Health Risk Pathogenic 3MC syndrome 2, Malignant tumor of urinary bladder
RS387907077 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS387907078 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS387907079 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Hypertrophic cardiomyopathy 20
RS387907080 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS387907081 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS387907082 WDR62 Health Risk Pathogenic/Likely pathogenic Microcephaly 2, primary
RS387907083 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS387907084 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS387907085 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly
RS387907086 SCARF2 Health Risk Likely pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS387907087 FOXRED1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS387907088 MSRB3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 74, Hearing loss
RS387907089 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS387907090 KBTBD13 Health Risk Pathogenic Nemaline myopathy 6, Nemaline myopathy 6
RS387907092 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS387907093 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS387907094 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS387907095 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS387907096 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS387907097 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Acute myeloid leukemia
RS387907098 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS387907099 COA5 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS387907101 BPNT2 Health Risk Pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS387907102 BPNT2 Health Risk Pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS387907103 BPNT2 Health Risk Pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS387907104 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS387907105 ZBTB24 Health Risk Pathogenic/Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS387907106 ZBTB24 Health Risk Pathogenic/Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS387907107 IFT43 Health Risk Pathogenic Cranioectodermal dysplasia 3, Cranioectodermal dysplasia 3
RS387907108 SPECC1L Health Risk Conflicting classifications of pathogenicity Oculomaxillofacial dysostosis, Oculomaxillofacial dysostosis
RS387907109 ZNF644 Health Risk Pathogenic Myopia 21, autosomal dominant
RS387907110 PRDM5 Health Risk Pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS387907111 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS387907112 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS387907113 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS387907114 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS387907115 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS387907117 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS387907118 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS387907119 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS387907121 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS387907123 BICC1 Health Risk risk factor Renal dysplasia, cystic
RS387907125 PRRT2 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia
RS387907126 PRRT2 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia
RS387907127 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Infantile convulsions and choreoathetosis
RS387907128 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia
RS387907129 RHBDF2 Health Risk Pathogenic/Likely pathogenic Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS387907130 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS387907131 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS387907132 TMEM138 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 16, Joubert syndrome 16
RS387907133 TMEM138 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 16, Joubert syndrome 16
RS387907134 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS387907135 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome and related disorders
RS387907136 CFAP418 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 16, Bardet-biedl syndrome 21
RS387907137 CFAP418 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 64
RS387907138 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS387907139 NDUFA12 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS387907140 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS387907141 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS387907142 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS387907143 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS387907144 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS387907145 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS387907146 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS387907147 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS387907148 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS387907149 CEACAM16 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS387907150 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Ehlers-Danlos syndrome
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