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
RS1057518987 ANKRD11 Health Risk Pathogenic Moderate intellectual deficiency, KBG syndrome
RS1057518988 GRIN2B Health Risk Pathogenic/Likely pathogenic Epilepsy, intellectual deficiency
RS1057518989 STXBP1 Health Risk Likely pathogenic Severe intellectual deficiency, Severe intellectual deficiency
RS1057518991 ADNP Health Risk Pathogenic/Likely pathogenic Autism, severe
RS1057518992 NFIA Health Risk Likely pathogenic Macrocephaly, Cleft palate
RS1057518993 IQSEC2 Health Risk Likely pathogenic Severe intellectual deficiency, Autism
RS1057518994 CACNA1C Health Risk Conflicting classifications of pathogenicity intellectual deficiency, Epilepsy
RS1057518995 KLF7 Health Risk Pathogenic/Likely pathogenic intellectual deficiency, KLF7-related disorder
RS1057518999 FOXP1 Health Risk Likely pathogenic Autism, Autism
RS1057519000 SLC35A2 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519002 ARID1B Health Risk Likely pathogenic dysmorphy, intellectual deficiency
RS1057519004 GRIN2B Health Risk Pathogenic/Likely pathogenic intellectual deficiency, Intellectual disability
RS1057519005 ASXL3 Health Risk Pathogenic Language retardation, intellectual deficiency
RS1057519006 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS1057519007 USP9X Health Risk Likely pathogenic Severe intellectual deficiency, Severe intellectual deficiency
RS1057519009 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome
RS1057519010 SCN2A Health Risk Likely pathogenic intellectual deficiency, intellectual deficiency
RS1057519012 EP300 Health Risk Likely pathogenic Microcephaly, intellectual deficiency
RS1057519014 RARS2 Health Risk Conflicting classifications of pathogenicity Severe intellectual deficiency, Pontocerebellar hypoplasia type 6
RS1057519015 HCN4 Health Risk Pathogenic Sick sinus syndrome 2, autosomal dominant
RS1057519017 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS1057519018 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1057519019 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS1057519021 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS1057519022 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS1057519023 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1057519024 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1057519025 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519026 C1R;C1RL Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519027 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1057519028 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS1057519029 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1057519033 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1057519034 EFNB1 Health Risk Conflicting classifications of pathogenicity Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1057519035 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS1057519036 FGFR2 Health Risk Pathogenic Crouzon syndrome, FGFR2-related craniosynostosis
RS1057519037 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, FGFR2-related craniosynostosis
RS1057519038 FGFR2 Health Risk Likely pathogenic Crouzon syndrome, FGFR2-related craniosynostosis
RS1057519039 FGFR2 Health Risk Likely pathogenic Crouzon syndrome, FGFR2-related craniosynostosis
RS1057519040 FGFR2 Health Risk Pathogenic/Likely pathogenic Crouzon syndrome, Crouzon syndrome
RS1057519041 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, FGFR2-related craniosynostosis
RS1057519042 FGFR2 Health Risk Pathogenic/Likely pathogenic Crouzon syndrome, Crouzon syndrome
RS1057519043 FGFR2 Health Risk Pathogenic Crouzon syndrome, FGFR2-related craniosynostosis
RS1057519044 FGFR2 Health Risk Pathogenic/Likely pathogenic Crouzon syndrome, 11 conditions
RS1057519045 FGFR2 Health Risk Pathogenic/Likely pathogenic Crouzon syndrome, Pemigatinib resistance
RS1057519046 FGFR2 Health Risk Likely pathogenic Craniosynostosis, nonspecific
RS1057519047 FGFR2 Health Risk Pathogenic/Likely pathogenic Pfeiffer syndrome, FGFR2-related craniosynostosis
RS1057519049 FGFR3 Health Risk Likely pathogenic Craniosynostosis, nonspecific
RS1057519050 TBX5 Health Risk Likely pathogenic Familial atrioventricular septal defect, Familial atrioventricular septal defect
RS1057519051 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057519052 DENND3 Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1057519053 DCC Health Risk Pathogenic Corpus callosum, agenesis of
RS1057519054 DCC Health Risk Pathogenic Corpus callosum, agenesis of
RS1057519055 DCC Health Risk Pathogenic Corpus callosum, agenesis of
RS1057519056 DCC Health Risk Pathogenic Corpus callosum, agenesis of
RS1057519057 DCC Health Risk Pathogenic Corpus callosum, agenesis of
RS1057519059 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1057519062 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1057519063 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1057519067 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1057519069 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1057519073 NDUFB11 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 30
RS1057519074 MSN Health Risk Pathogenic Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
RS1057519075 MSN Health Risk Likely pathogenic Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
RS1057519076 KCNN4 Health Risk Likely pathogenic Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
RS1057519077 KCNN4 Health Risk Likely pathogenic Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
RS1057519078 KIF5A Health Risk Pathogenic Myoclonus, intractable
RS1057519079 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1057519080 HTRA2 Health Risk Pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS1057519081 HTRA2 Health Risk Pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS1057519082 HTRA2 Health Risk Pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS1057519083 DCPS Health Risk Pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS1057519084 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS1057519085 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS1057519087 MFSD2A Health Risk Pathogenic Microcephaly 15, primary
RS1057519090 COL4A2 Health Risk Pathogenic —
RS1057519092 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS1057519093 TNNI2 Health Risk Likely pathogenic —
RS1057519097 AICDA Health Risk Likely pathogenic —
RS1057519098 GNAL Health Risk Pathogenic —
RS1057519101 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1057519105 DNAH11 Health Risk Likely pathogenic —
RS1057519106 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1057519107 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS1057519108 SPAST Health Risk Conflicting classifications of pathogenicity —
RS1057519112 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1057519117 SBF1 Health Risk Likely pathogenic —
RS1057519118 CYP19A1;MIR4713HG;PIRC66 Health Risk Likely pathogenic —
RS1057519124 KCNQ2 Health Risk Pathogenic —
RS1057519126 LRP5 Health Risk Pathogenic —
RS1057519127 LRP5 Health Risk Likely pathogenic —
RS1057519128 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1057519129 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1057519130 COL9A1 Health Risk Pathogenic —
RS1057519131 FXN Health Risk Conflicting classifications of pathogenicity —
RS1057519132 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1057519133 ALMS1 Health Risk Likely pathogenic —
RS1057519134 SPTLC2 Health Risk Pathogenic —
RS1057519136 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1057519141 KIF11 Health Risk Likely pathogenic —
« Prev 1 ... 64 65 66 67 68 69 70 ... 4509 Next »

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

Get Started Free →