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
RS1288851720 HPS3 Health Risk Likely pathogenic —
RS1288867889 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1288870299 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1288885072 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS1288886820 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1288894654 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1288895691 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1288919501 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1288927267 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1288928564 TOP3A Health Risk Likely pathogenic Microcephaly, growth restriction
RS1288933417 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1288935191 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1288935529 TPO Health Risk Pathogenic —
RS1288948653 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1288962949 LAMC3 Health Risk Pathogenic —
RS1288967589 CPLANE1 Health Risk Pathogenic —
RS1288976071 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1288977289 ALG8 Health Risk Likely pathogenic ALG8-related disorder, ALG8 congenital disorder of glycosylation
RS1288977950 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1288997339 BRSK2 Health Risk Likely pathogenic —
RS1289015582 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1289016419 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1289033749 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS1289037294 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1289051833 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1289055030 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1289067120 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1289077489 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1289090477 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS1289108911 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS1289132704 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1289139464 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS1289149988 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1289195190 CEP250 Health Risk Likely pathogenic —
RS1289232116 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1289240183 ADAMTS17 Health Risk Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS1289241865 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1289270339 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1289281166 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1289316104 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1289330733 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1289335417 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1289339080 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1289362452 RCC1 Health Risk Likely pathogenic See cases, See cases
RS1289377349 LRRC23 Health Risk Pathogenic Spermatogenic failure 92, Spermatogenic failure 92
RS1289388105 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1289391715 COL27A1 Health Risk Pathogenic Steel syndrome, Thyroid cancer
RS1289397237 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1289406215 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1289411487 VAMP2 Health Risk Pathogenic —
RS1289414853 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Infiltrating duct carcinoma of breast
RS1289440571 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS1289448496 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1289468231 ARID1B Health Risk Pathogenic —
RS1289497047 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS1289499829 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1289506712 SPTA1 Health Risk Likely pathogenic —
RS1289520784 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS1289523206 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1289523507 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS1289536335 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1289537429 PIK3R1 Health Risk Pathogenic Colorectal cancer, Immunodeficiency 36 with lymphoproliferation
RS1289539591 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS1289546006 SLC24A1 Health Risk Pathogenic —
RS1289561228 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1289591017 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS1289601144 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1289618918 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1289630665 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1289634533 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS12896399 SLC24A4 Health Risk association SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR
RS1289646352 TMC1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS1289649383 ATG4D Health Risk Pathogenic ASHER, ASHER
RS1289650070 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS1289658632 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1289660997 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1289665675 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1289671563 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Ovarian serous cystadenocarcinoma
RS1289685376 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A
RS1289730745 TCF12 Health Risk Pathogenic —
RS1289751768 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS1289787991 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1289819331 MED17 Health Risk Likely pathogenic —
RS1289822620 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS1289826078 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1289830071 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1289836014 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1289852067 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS1289855948 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1289864888 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1289878587 TSEN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1289882454 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1289887836 RUSC2 Health Risk Pathogenic Intellectual disability, autosomal recessive 61
RS1289890879 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1289894249 TTPA Health Risk Pathogenic —
RS1289895910 LOXHD1 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS12899055 SLCO3A1 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1289916492 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1289931198 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1289954163 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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