SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS869312897 ANTXR1 Health Risk Likely pathogenic GAPO syndrome, GAPO syndrome
RS869312898 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS869312900 MPLKIP Health Risk Pathogenic Trichothiodystrophy 4, nonphotosensitive
RS869312901 SKI Health Risk Pathogenic/Likely pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS869312902 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS869312903 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Aortic aneurysm
RS869312905 LBR Health Risk Pathogenic Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
RS869312906 SNAP29 Health Risk Pathogenic/Likely pathogenic CEDNIK syndrome, CEDNIK syndrome
RS869312907 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, Stanescu type
RS869312908 SERPINF1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS869312909 NOTCH3 Health Risk Pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS869312910 NOTCH3 Health Risk Pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS869312911 NOTCH3 Health Risk Pathogenic Lateral meningocele syndrome, Lateral meningocele syndrome
RS869312913 ZFHX3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS869312914 ZFYVE26 Health Risk Pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 15
RS869312915 NPHP3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Nephronophthisis
RS869312916 GRIN2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Landau-Kleffner syndrome
RS869312917 PCNT Health Risk Pathogenic Inborn genetic diseases, Microcephalic osteodysplastic primordial dwarfism type II
RS869312918 DARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS869312919 GBE1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Glycogen storage disease
RS869312920 CACNA1E Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS869312922 RFXANK Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, MHC class II deficiency
RS869312923 VPS13B Health Risk Pathogenic Inborn genetic diseases, Cohen syndrome
RS869312925 KARS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312927 ACO2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312928 AMPD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312929 PCNT Health Risk Pathogenic Inborn genetic diseases, Microcephalic osteodysplastic primordial dwarfism type II
RS869312930 DARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS869312931 BRAT1 Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS869312932 LINS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312933 OBSCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312934 PEX19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312935 PEX10 Health Risk Likely pathogenic Inborn genetic diseases, Peroxisome biogenesis disorder
RS869312939 GNAO1 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS869312940 SRI Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312941 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS869312944 PKD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS869312946 ACAT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312949 SPAST Health Risk Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 4
RS869312951 ANO3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312952 NALCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312953 JAK1 Health Risk Likely pathogenic Inborn genetic diseases, Autoinflammation
RS869312954 SMC1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312955 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS869312956 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS869312957 ORC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312961 FOXG1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312962 KAT6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312963 SBF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS869312964 SMARCA4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312965 GLI2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312966 SCN8A Health Risk Pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS869312967 SLC27A4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312968 AIMP2 Health Risk Pathogenic Inborn genetic diseases, Leukodystrophy
RS869312969 ORC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312970 SBF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS869312971 RORB Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS869312972 RORB Health Risk Likely pathogenic Inborn genetic diseases, Epilepsy
RS869312973 C3AR1 Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical
RS869312976 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312977 SEC63 Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 2
RS869312978 SEC63 Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS869312979 POLA1 Health Risk Pathogenic X-linked reticulate pigmentary disorder, X-linked reticulate pigmentary disorder
RS869312980 TAPT1 Health Risk Pathogenic Complex lethal osteochondrodysplasia, Complex lethal osteochondrodysplasia
RS869312981 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS869312984 NUP205 Health Risk Pathogenic Nephrotic syndrome, type 13
RS869312985 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312986 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312987 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312988 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312989 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312990 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312991 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312992 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312993 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312994 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS869312995 OPA1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
RS869312996 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS869312997 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS869320617 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS869320618 RHO Health Risk Pathogenic Retinitis pigmentosa 4, autosomal recessive
RS869320619 PMS2 Health Risk Pathogenic/Likely pathogenic Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS869320620 IGF2 Health Risk Pathogenic Silver-Russell syndrome 3, Silver-Russell syndrome 3
RS869320621 REEP1 Health Risk Pathogenic Spinal muscular atrophy, distal
RS869320623 EMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Cerebellar atrophy
RS869320624 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS869320625 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS869320627 OVOL2 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
RS869320628 OVOL2 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
RS869320629 OVOL2 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
RS869320630 OVOL2 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
RS869320631 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS869320632 LMAN2L Health Risk Pathogenic Intellectual disability, autosomal recessive 52
RS869320633 TAPT1 Health Risk Pathogenic Complex lethal osteochondrodysplasia, Complex lethal osteochondrodysplasia
RS869320635 LRP6 Health Risk Pathogenic Orofacial cleft, Tooth agenesis
RS869320636 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS869320637 LRP6 Health Risk Likely pathogenic Tooth agenesis, Tooth agenesis
RS869320638 LRP6 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS869320639 LRP6 Health Risk Likely pathogenic Tooth agenesis, Tooth agenesis
RS869320640 LRP6 Health Risk Likely pathogenic Tooth agenesis, Tooth agenesis
« Prev 1 ... 3856 3857 3858 3859 3860 3861 3862 ... 4010 Next »

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

Get Started Free →