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
RS192973258 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1929749440 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1929773822 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1929774367 AR Health Risk Pathogenic Pure gonadal dysgenesis 46, XY
RS1929832980 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS192983732 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS192986766 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS192989152 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS192990689 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS192994934 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS192997971 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1929999634 CHM Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930006988 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1930009592 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1930010425 TMPRSS6 Health Risk Pathogenic Microcytic anemia, Microcytic anemia
RS1930018183 PHEX Health Risk Pathogenic —
RS193001955 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1930020467 PHEX Health Risk Pathogenic —
RS1930023604 PHEX Health Risk Pathogenic —
RS193002694 AVP Health Risk Conflicting classifications of pathogenicity —
RS193003183 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS1930082852 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1930082958 CHM Health Risk Likely pathogenic —
RS1930083443 CHM Health Risk Pathogenic —
RS1930090887 CHM Health Risk Pathogenic Retinal dystrophy, Nonpapillary renal cell carcinoma
RS1930141997 CHM Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1930171625 PHEX Health Risk Pathogenic —
RS193019967 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS1930207901 AMER1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1930218305 SMARCB1 Health Risk Conflicting classifications of pathogenicity SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1
RS1930219613 SMARCB1 Health Risk Pathogenic —
RS1930225458 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intellectual disability
RS193022702 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS1930230378 SMARCB1 Health Risk Likely pathogenic —
RS1930230724 AMER1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS193023834 SUGCT Health Risk Conflicting classifications of pathogenicity —
RS193024188 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS1930251154 AMER1 Health Risk Pathogenic/Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1930253284 AMER1 Health Risk Pathogenic —
RS193025475 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1930259440 AMER1 Health Risk Pathogenic —
RS1930260782 AMER1 Health Risk Pathogenic —
RS193026789 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS193027041 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1930277434 AMER1 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS1930280217 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1930286519 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1930291143 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1930292419 PHEX Health Risk Pathogenic —
RS1930293543 PHEX Health Risk Pathogenic —
RS1930295441 PHEX Health Risk Pathogenic —
RS1930295914 PHEX Health Risk Pathogenic —
RS1930300418 PHEX Health Risk Pathogenic —
RS193030567 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS193035848 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS193036129 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1930396705 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1930398120 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS1930413413 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1930414140 CHM Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930416163 CHM Health Risk Pathogenic —
RS1930421028 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930422383 CHM Health Risk Pathogenic —
RS1930424354 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS1930424797 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930428430 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS193042896 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1930431885 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1930435561 CHM Health Risk Pathogenic —
RS1930435879 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930438584 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1930439753 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1930445401 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1930458591 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1930459512 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1930463806 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1930490416 MIEF1 Health Risk Pathogenic Optic atrophy 14, Optic atrophy 14
RS1930491968 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS193049501 FMN2 Health Risk Conflicting classifications of pathogenicity —
RS193049694 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS193053180 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS193056942 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1930638172 POLA1 Health Risk Likely pathogenic Inherited aplastic anemia, Inherited aplastic anemia
RS193066451 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1930671469 EIF2S3 Health Risk Conflicting classifications of pathogenicity MEHMO syndrome, MEHMO syndrome
RS193068692 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1930707138 CHM Health Risk Pathogenic —
RS193072191 ACSL4 Health Risk Conflicting classifications of pathogenicity Non-syndromic X-linked intellectual disability, ACSL4-related disorder
RS193072890 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related disorder, SHOX-related disorder
RS1930749813 ANOS1 Health Risk Conflicting classifications of pathogenicity Micropenis, ANOS1-related disorder
RS193076739 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS193077277 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS193080010 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS193085132 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Inborn genetic diseases
RS193096019 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1930961231 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1930963615 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1930963832 PHEX Health Risk Pathogenic PHEX-related disorder, PHEX-related disorder
RS1930964041 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1930964729 PHEX Health Risk Pathogenic —
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