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
RS886041667 HSPG2 Health Risk Pathogenic —
RS886041668 STXBP1 Health Risk Pathogenic/Likely pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS886041669 POGZ Health Risk Pathogenic See cases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS886041670 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS886041671 AUTS2 Health Risk Pathogenic —
RS886041672 TCOF1 Health Risk Pathogenic —
RS886041673 CDKL5 Health Risk Pathogenic —
RS886041674 CPAP Health Risk Pathogenic —
RS886041675 SGCE Health Risk Pathogenic —
RS886041676 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS886041677 NBEAL2 Health Risk Pathogenic —
RS886041678 VPS13B Health Risk Pathogenic —
RS886041679 PAX6 Health Risk Pathogenic —
RS886041680 PHEX Health Risk Pathogenic —
RS886041681 PHEX Health Risk Pathogenic —
RS886041682 KMT2C Health Risk Pathogenic —
RS886041683 PHEX Health Risk Pathogenic —
RS886041684 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS886041685 SATB2 Health Risk Pathogenic —
RS886041686 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion
RS886041687 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS886041688 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS886041690 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS886041691 KCNT1 Health Risk Pathogenic/Likely pathogenic Malignant migrating partial seizures of infancy, Developmental and epileptic encephalopathy
RS886041692 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS886041693 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS886041694 PHEX Health Risk Pathogenic —
RS886041695 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041696 SOS1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS886041697 ATP2A2 Health Risk Pathogenic —
RS886041698 ZEB2 Health Risk Pathogenic —
RS886041699 EXT1 Health Risk Pathogenic —
RS886041700 ATRX Health Risk Pathogenic —
RS886041701 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS886041703 MPLKIP Health Risk Pathogenic —
RS886041704 L1CAM Health Risk Pathogenic —
RS886041705 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS886041706 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS886041707 ARID1B Health Risk Pathogenic —
RS886041708 GCH1 Health Risk Pathogenic —
RS886041709 ASPM Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS886041710 FLNA Health Risk Pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia
RS886041712 CNKSR2 Health Risk Pathogenic —
RS886041713 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS886041714 COL4A1 Health Risk Pathogenic —
RS886041715 GNAO1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 17
RS886041716 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS886041717 CHD2 Health Risk Pathogenic —
RS886041719 TBX18 Health Risk Conflicting classifications of pathogenicity —
RS886041720 ASPM Health Risk Pathogenic —
RS886041721 ASPM Health Risk Pathogenic —
RS886041722 ADNP Health Risk Pathogenic —
RS886041723 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome
RS886041724 ANKRD11 Health Risk Pathogenic —
RS886041725 BCOR Health Risk Pathogenic —
RS886041726 PHEX Health Risk Pathogenic —
RS886041727 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886041729 CHD7 Health Risk Pathogenic —
RS886041730 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS886041731 KAT6A Health Risk Pathogenic —
RS886041732 MECP2 Health Risk Pathogenic —
RS886041733 SCN1A Health Risk Pathogenic —
RS886041734 NSD1 Health Risk Pathogenic —
RS886041735 PRRT2 Health Risk Pathogenic —
RS886041736 DCX Health Risk Pathogenic —
RS886041737 OFD1 Health Risk Pathogenic —
RS886041738 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, See cases
RS886041739 EP300 Health Risk Pathogenic —
RS886041740 RASA1 Health Risk Pathogenic —
RS886041741 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS886041742 RBM10 Health Risk Pathogenic —
RS886041743 KCNB1 Health Risk Pathogenic KCNB1-related disorder, KCNB1-related disorder
RS886041744 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS886041745 RAG1 Health Risk Pathogenic —
RS886041746 MEN1 Health Risk Pathogenic —
RS886041747 CD40LG Health Risk Pathogenic —
RS886041748 ATP2A2 Health Risk Pathogenic —
RS886041749 COL1A2 Health Risk Pathogenic —
RS886041750 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS886041751 FBN1 Health Risk Pathogenic —
RS886041752 SLC20A2 Health Risk Pathogenic —
RS886041753 ASXL3 Health Risk 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
RS886041754 PURA Health Risk Pathogenic PURA Syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS886041755 SETD5 Health Risk Pathogenic —
RS886041756 ACTG1 Health Risk Likely pathogenic —
RS886041757 CPLANE1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS886041758 TSC2 Health Risk Pathogenic —
RS886041759 CYP11A1 Health Risk Pathogenic —
RS886041760 ANKRD11 Health Risk Pathogenic —
RS886041761 KCNA2 Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS886041762 PHEX Health Risk Pathogenic —
RS886041763 PHEX Health Risk Pathogenic —
RS886041764 CDKL5 Health Risk Pathogenic —
RS886041765 DYRK1A Health Risk Pathogenic —
RS886041766 GNAO1 Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS886041767 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS886041768 PHEX Health Risk Pathogenic —
RS886041769 DDX3X Health Risk Pathogenic —
RS886041771 FLNA Health Risk Pathogenic —
RS886041772 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 1
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