SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1208531254 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1208569498 DLL3 Health Risk Pathogenic —
RS1208575764 FLT3 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1208593429 PUS3 Health Risk Likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS1208611147 RNU4ATAC Health Risk Conflicting classifications of pathogenicity RNU4ATAC-related spliceosomopathies, RNU4ATAC-related spliceosomopathies
RS1208616690 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1208628241 SOX2 Health Risk Pathogenic/Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1208636573 MSTO1 Health Risk Likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1208636696 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1208652152 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1208669621 DNAJC21 Health Risk Pathogenic —
RS1208681909 KMT2D Health Risk Likely pathogenic —
RS1208700189 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1208703297 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1208704909 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
RS1208715055 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS1208723557 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS1208736713 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1208742830 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, PSEN2-related disorder
RS1208761835 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1208799683 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1208811629 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1208820400 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1208834216 MYH14 Health Risk Pathogenic MYH14-related disorder, MYH14-related disorder
RS1208838203 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome and Noonan-related syndrome
RS1208845035 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1208849844 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1208855163 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS1208873596 ABCC2 Health Risk Pathogenic —
RS1208879197 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1208909878 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1208927738 CACNA1B Health Risk Pathogenic —
RS1208934708 NBAS Health Risk Likely pathogenic —
RS1208949378 TCF20 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1208952914 SLC26A3 Health Risk Pathogenic Polyhydramnios, Hydrops fetalis
RS1209004897 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1209013786 FANCB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1209021925 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1209026051 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1209029221 TNFRSF11A Health Risk Pathogenic —
RS1209052568 BOLA3 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS1209057640 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1209062363 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1209068432 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1209071029 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1209087083 PIGG Health Risk Likely pathogenic —
RS1209098685 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal carcinoma
RS1209104357 AGBL5 Health Risk Pathogenic —
RS1209105017 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1209123501 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS12091253 LAMB3 Health Risk Conflicting classifications of pathogenicity LAMB3-related disorder, Inborn genetic diseases
RS1209130981 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1209143268 ABCG8 Health Risk Likely pathogenic —
RS1209147330 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, See cases
RS1209154325 GALNS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Morquio syndrome
RS1209173070 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1209188502 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1209208472 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1209227358 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1209261790 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN-related disorder
RS1209266607 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1209270051 PNLIP Health Risk Pathogenic —
RS1209271799 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1209280928 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1209312070 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1209321050 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1209332250 MME Health Risk Conflicting classifications of pathogenicity —
RS1209337990 TRDN Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1209343108 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1209349503 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1209357687 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS1209379774 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1209384219 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1209386423 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1209389771 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1209393896 CERKL Health Risk Likely pathogenic Stargardt disease, Retinitis pigmentosa 26
RS1209396791 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS1209400793 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS1209412483 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1209421607 CEP290 Health Risk Likely pathogenic Meckel syndrome, type 4
RS1209423257 MRPL39 Health Risk Pathogenic Leigh syndrome, Combined oxidative phosphorylation deficiency 59
RS1209447028 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1209455991 PLXNA3 Health Risk Conflicting classifications of pathogenicity —
RS1209458962 ATP6V0A4 Health Risk Likely pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS1209473816 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1209493320 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1209497158 USH2A Health Risk Pathogenic —
RS1209510659 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1209536013 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1209537944 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1209546147 COL2A1 Health Risk Pathogenic —
RS1209546374 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1209550754 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1209551499 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1209582847 PNPT1 Health Risk Likely pathogenic —
RS1209588647 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS1209593787 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1209605608 CLCN7 Health Risk Likely pathogenic —
RS1209610920 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1209622397 HFM1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
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