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
RS1881807337 FOXG1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1881808715 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1881809272 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1881812495 FOXG1 Health Risk Pathogenic —
RS1881815891 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1881816066 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881817310 FOXG1 Health Risk Pathogenic FOXG1 disorder, Inborn genetic diseases
RS1881819022 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881820386 FOXG1 Health Risk Pathogenic —
RS188182072 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1881828200 FOXG1 Health Risk Pathogenic FOXG1 disorder, Neurodevelopmental disorder
RS188182890 BLTP1 Health Risk Conflicting classifications of pathogenicity Alkuraya-Kucinskas syndrome, BLTP1-related disorder
RS188184732 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS188185141 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1881865054 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS188188069 FAT1 Health Risk Conflicting classifications of pathogenicity —
RS188188906 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS188194665 SGPL1 Health Risk Conflicting classifications of pathogenicity —
RS188198404 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS188202707 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188203905 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Joubert syndrome 7
RS1882052778 PNP Health Risk Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS188208167 AFF2 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1882116704 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS1882120489 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1882123662 SLC25A15 Health Risk Likely pathogenic —
RS1882127556 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS188212919 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS188214239 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS188216614 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1882179247 KIF5A Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS188218914 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1882201496 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS1882225878 COL4A2 Health Risk Likely pathogenic —
RS1882232971 ERCC5 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group G
RS1882233400 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1882272161 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1882296594 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1882296805 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder
RS1882325267 TPP2 Health Risk Pathogenic Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay
RS188233679 KY Health Risk Conflicting classifications of pathogenicity KY-related disorder, Inborn genetic diseases
RS188234466 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS188245182 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS188246267 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS188247308 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS188247474 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS188248622 MYO1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 6
RS1882493359 DCT Health Risk Pathogenic/Likely pathogenic Albinism, Oculocutaneous albinism type 8
RS188251941 CDH2 Health Risk Conflicting classifications of pathogenicity —
RS188252400 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS188252826 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1882538642 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS1882542959 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS1882578572 KIF5A Health Risk Conflicting classifications of pathogenicity Myoclonus, intractable
RS1882579168 KIF5A Health Risk Likely pathogenic —
RS1882585452 KIF5A Health Risk Likely pathogenic Myoclonus, intractable
RS188258913 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS188259026 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1882598771 KIF5A Health Risk Pathogenic —
RS1882625482 IFNG Health Risk Pathogenic Immunodeficiency 69, Immunodeficiency 69
RS1882640177 KIF5A Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Spastic paraplegia
RS1882641004 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS188269446 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS188269735 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1882701423 ERCC5 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS188270548 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma
RS188272653 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS188272768 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 6, Noonan syndrome 6
RS188273166 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS188279654 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, TCOF1-related disorder
RS1882806435 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum group G/Cockayne syndrome
RS188280904 SETD1B Health Risk Conflicting classifications of pathogenicity SETD1B-related disorder, SETD1B-related disorder
RS188282049 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS188283330 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, COCH-related disorder
RS188284006 SLC6A17 Health Risk Conflicting classifications of pathogenicity —
RS1882847374 POC1B Health Risk Pathogenic —
RS1882854195 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1882855292 ERCC5 Health Risk Pathogenic —
RS188286943 VPS35 Health Risk Pathogenic Parkinson disease 17, Parkinson disease 17
RS1882879689 MGAT2 Health Risk Likely pathogenic MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
RS1882904268 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1882924778 POC1B Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1882929478 POC1B Health Risk Likely pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS188293278 NYX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188293910 MAGI2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1882945917 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1882946937 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1882968821 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1882975083 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS1882993257 SYT1 Health Risk Conflicting classifications of pathogenicity Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1883001175 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS188300485 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS1883031542 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1883036406 RPGRIP1 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1883065804 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS188308261 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Inborn genetic diseases
RS1883084009 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS188309190 CLTC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188309404 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS188310109 MTRFR Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Combined oxidative phosphorylation defect type 7
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