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
RS1953064795 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953064841 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953066164 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1953066558 MYO7A Health Risk Pathogenic —
RS1953067028 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953069110 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953072149 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1953073126 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953075862 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1953090856 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953091771 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS1953092495 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953100514 C2CD3 Health Risk Likely pathogenic —
RS1953131447 MYO7A Health Risk Pathogenic —
RS1953151412 MYO7A Health Risk Pathogenic —
RS1953155445 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953155498 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953165224 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953165554 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953188177 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1953258238 ST14 Health Risk Likely pathogenic —
RS1953288507 CEP63 Health Risk Pathogenic —
RS1953320426 GNPTAB Health Risk Likely pathogenic Mucolipidosis, Mucolipidosis
RS1953321100 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953321606 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953326710 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953327287 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953327561 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1953365097 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS1953368935 ST14 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
RS1953383789 DDB2 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS1953425077 EHMT1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1953470546 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1953476601 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS1953478890 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1953513223 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1
RS1953513506 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1953519454 MYO7A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1953535914 PAX6 Health Risk Pathogenic —
RS1953562945 C2CD3 Health Risk Pathogenic —
RS1953580574 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS1953583830 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1953589834 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1953591118 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1953668281 DDB2 Health Risk Likely pathogenic —
RS1953701770 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS1953791177 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1953795381 ABCC8 Health Risk Likely pathogenic —
RS1953843456 ABCC8 Health Risk Likely pathogenic Hereditary hyperinsulinism, Hereditary hyperinsulinism
RS1953845407 ABCC8 Health Risk Likely pathogenic Diabetes mellitus, permanent neonatal 3
RS1953871835 PRIM1 Health Risk Pathogenic Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome
RS1953885548 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1953896100 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1953899672 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS1953909830 PAX6 Health Risk Pathogenic —
RS1953942935 CPAP Health Risk Pathogenic —
RS1953949496 CPAP Health Risk Pathogenic —
RS1953961273 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1953966878 WNK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS1953969921 PAX6 Health Risk Likely pathogenic —
RS1953981445 ABCC8 Health Risk Likely pathogenic —
RS1953988179 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1954013968 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1954023351 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1954058406 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1954079044 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954081053 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954081372 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954082764 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954084273 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954086080 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954088614 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954091762 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954107890 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954108641 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954108778 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954187933 EXT2 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1954226902 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 1
RS1954237712 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1954240719 MYO7A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1954248090 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1954250327 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1954260410 DIABLO Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64
RS1954336215 DHX37 Health Risk Likely pathogenic 46, XY sex reversal 11
RS1954336272 DHX37 Health Risk Likely pathogenic 46, XY sex reversal 11
RS1954346640 DHX37 Health Risk Pathogenic 46, XY sex reversal 11
RS1954358233 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954359599 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS1954365477 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954372352 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954372994 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954373010 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954373394 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954373441 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954374127 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954374671 DES Health Risk Pathogenic/Likely pathogenic DES-related disorder, Desmin-related myofibrillar myopathy
RS1954375189 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954378294 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954411419 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954411719 EXT2 Health Risk Pathogenic Exostoses, multiple
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