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
RS768302786 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS768302841 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
RS768303070 PROM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS768303416 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS768303931 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS768305224 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS768305533 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768305634 UGP2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 83
RS768306211 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS768306978 LAMC3 Health Risk Pathogenic —
RS768307347 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS768308018 CARD9 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS768308084 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS768308376 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS768309014 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768309637 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS768310043 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS76831011 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS768311617 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS768312159 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS768312615 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS768312895 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS768313658 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768313777 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS768314617 ADAMTS18 Health Risk Likely pathogenic —
RS768314657 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS768316614 MADD Health Risk Likely pathogenic MADD-related disorder, MADD-related disorder
RS768317443 PCNT Health Risk Pathogenic —
RS768317581 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS768317667 SPTB Health Risk Conflicting classifications of pathogenicity —
RS768319200 KLKB1 Health Risk Pathogenic/Likely pathogenic Inherited prekallikrein deficiency, KLKB1-related disorder
RS768320625 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS768321160 COL11A1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS768321445 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS768322665 RP1L1 Health Risk Likely pathogenic —
RS768322699 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS768323248 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive complex spastic paraplegia type 9B, de Barsy syndrome
RS768323491 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS768323836 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768323979 WEE2 Health Risk Likely pathogenic Oocyte maturation defect 5, WEE2-related disorder
RS768324201 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS768326843 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS768327292 ANK2 Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, ankyrin-B-related
RS768327850 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS768328175 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS768328398 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Intellectual disability
RS768328532 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS768329311 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS768330574 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS768331573 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS768331750 CPAP Health Risk Likely pathogenic —
RS768332878 TOPORS Health Risk Likely pathogenic —
RS768333416 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS768333722 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS768334388 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS768334641 LOXHD1 Health Risk Pathogenic —
RS768335521 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768335581 KLHL40 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS768335993 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS768337150 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS768338180 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS768339073 STAG1 Health Risk Conflicting classifications of pathogenicity —
RS768341401 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS768342020 ASAH1 Health Risk Pathogenic —
RS768342041 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS768342367 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS768342562 MPLKIP Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS768342700 FREM2 Health Risk Pathogenic —
RS768343995 SLC25A22 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS768344665 YARS2 Health Risk Pathogenic —
RS768345097 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS768345594 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS768346595 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS768346864 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS768347895 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS768348083 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768348357 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS768349133 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768349236 KARS1 Health Risk Pathogenic LEUKOENCEPHALOPATHY, PROGRESSIVE
RS768349691 SETX Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS768349870 CEP152 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768351547 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768351915 AARS2 Health Risk Pathogenic/Likely pathogenic AARS2-related disorder, Adrenocortical carcinoma
RS768352839 ABCA4 Health Risk Pathogenic —
RS768353633 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS768354829 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS76835557 FMN1 Health Risk Conflicting classifications of pathogenicity FMN1-related disorder, FMN1-related disorder
RS768355659 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS768356403 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768356739 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS768357480 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS768358201 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768358494 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS768359741 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768359816 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS768360449 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS768361045 DNAH1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS768361273 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS768361857 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768362011 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
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