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
RS763056271 CHKA Health Risk Likely pathogenic Microcephaly, Severe intellectual disability
RS763057107 NBAS Health Risk Pathogenic —
RS763057505 TBCK Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Hypotonia
RS76305791 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS763058068 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763058208 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS763058648 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763059203 COQ2 Health Risk Pathogenic —
RS763059448 ADCY10 Health Risk Pathogenic Familial idiopathic hypercalciuria, Familial idiopathic hypercalciuria
RS763060505 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS763060788 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763060857 LAMA3 Health Risk Pathogenic Laryngo-onycho-cutaneous syndrome, Laryngo-onycho-cutaneous syndrome
RS763061457 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS763062406 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS763062791 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS763062802 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
RS763063055 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS763063355 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS763063590 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763065333 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS763065439 TTN Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS763065648 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS763065753 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763065970 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS763066236 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS763067676 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS763068053 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS763068104 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS763069544 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS763069723 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS763070657 MED13 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 61, Inborn genetic diseases
RS763071340 PALB2 Health Risk Likely pathogenic —
RS763073235 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, DOCK6-related disorder
RS763073466 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS763074368 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS763075073 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS763075374 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS763075781 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763075924 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS763077790 AEBP1 Health Risk Conflicting classifications of pathogenicity —
RS763077801 RMND1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS763078071 ACTN2 Health Risk Pathogenic —
RS763078534 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS763079458 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS763079713 RAD9B Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS763080313 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS763080896 B3GALT6 Health Risk Pathogenic Al-Gazali syndrome, Al-Gazali syndrome
RS76308115 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS763081757 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763081912 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763082630 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS763082717 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS763083098 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS763084272 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS763084523 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS763084936 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS763085148 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS763085648 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS763086647 UROD Health Risk Pathogenic/Likely pathogenic —
RS763088062 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS763089013 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS763089587 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS763089663 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS763090302 MCM3AP Health Risk Pathogenic/Likely pathogenic —
RS763090658 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS763091085 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS763091520 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Marfan syndrome
RS763093482 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Dystonia 16
RS763093656 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS76309459 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS763094928 TJP2 Health Risk Pathogenic —
RS763094966 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS763096294 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Inborn genetic diseases
RS763097721 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS763098116 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS763098227 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS763098618 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS763099064 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763099442 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS763099446 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS763099671 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS763100088 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763100457 MAN2B1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Deficiency of alpha-mannosidase
RS763100661 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS763101025 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS763101269 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS763103286 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS763103460 TJP2 Health Risk Likely pathogenic —
RS763104308 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763104913 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS763107032 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS763107166 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS763107572 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS763108716 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS763108828 CREBBP Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS763110 FASLG Health Risk risk factor LUNG CANCER, SUSCEPTIBILITY TO
RS763110287 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS763111500 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS763112634 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS763112832 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
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