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
RS181533618 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS1815344712 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1815345770 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1815354949 VPS13B Health Risk Pathogenic Microcephaly, Microcephaly
RS181536548 P3H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1815370807 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1815413655 CYP3A4 Health Risk Pathogenic Vitamin D-dependent rickets, type 3
RS1815414782 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1815419592 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS1815425378 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1815426930 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1815438013 TG Health Risk Pathogenic —
RS181545106 PCARE Health Risk Conflicting classifications of pathogenicity —
RS1815455535 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS181546197 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS181546859 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases
RS1815496874 TG Health Risk Pathogenic —
RS1815564741 TG Health Risk Pathogenic —
RS1815572053 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS1815582943 DNAAF11 Health Risk Pathogenic —
RS1815591671 TG Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS181561310 DNAH7 Health Risk Conflicting classifications of pathogenicity —
RS181562693 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1815641175 TMEM70 Health Risk Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1815648647 TMEM70 Health Risk Pathogenic —
RS181564966 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS181566154 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS1815680018 TG Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS181570274 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS181571822 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5
RS181573957 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS181574808 TBC1D32 Health Risk Conflicting classifications of pathogenicity TBC1D32-related disorder, Inborn genetic diseases
RS181575833 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS181576159 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS181576269 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS181579601 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1815800575 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1815805060 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1815818452 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS181583071 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS181583261 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS181585555 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS181591912 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1815998956 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS181603431 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS181608152 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1816111137 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181612536 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS181612746 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS181618883 ATP1A2 Health Risk Pathogenic/Likely pathogenic Familial hemiplegic migraine, Migraine
RS1816195552 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS181625846 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS181626399 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1816281097 POP1 Health Risk Likely pathogenic Anauxetic dysplasia 2, Anauxetic dysplasia 2
RS181628906 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Gastric cancer
RS1816289467 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootic syndrome 1
RS1816304706 PUF60 Health Risk Pathogenic Neurodevelopmental abnormality, PUF60-related disorder
RS1816322210 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816336903 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816345861 PUF60 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1816366242 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1816367128 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS181639116 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Susceptibility to nonsyndromic otitis media
RS181639417 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1816395005 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181639729 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS1816408985 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1816412380 PUF60 Health Risk Pathogenic —
RS1816414644 VPS13B Health Risk Pathogenic Inborn genetic diseases, Cohen syndrome
RS1816422602 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1816425634 VPS13B Health Risk Likely pathogenic VPS13B-related disorder, Cohen syndrome
RS181642642 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1816433701 FGFR1 Health Risk Pathogenic Encephalocraniocutaneous lipomatosis, Encephalocraniocutaneous lipomatosis
RS181646633 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS181649030 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS181652196 TAPT1 Health Risk Conflicting classifications of pathogenicity —
RS181654531 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS1816551992 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816555365 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816558436 PUF60 Health Risk Conflicting classifications of pathogenicity 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816565452 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1816565787 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, Intellectual disability
RS1816566795 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS1816568888 PUF60 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1816578250 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Inborn genetic diseases
RS181658753 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS1816618311 PUF60 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
RS1816621138 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1816624373 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS181663420 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1816693659 TG Health Risk Pathogenic —
RS181669993 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS1816713664 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181672516 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
RS181677134 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1816782806 WASHC5 Health Risk Likely pathogenic Lower limb spasticity, Lower limb spasticity
RS1816786087 RCL1 Health Risk Pathogenic Psychotic disorder, Psychotic disorder
RS181679744 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS181682094 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HPS5-related disorder
RS1816868757 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
« Prev 1 ... 1257 1258 1259 1260 1261 1262 1263 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →