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
RS1600766500 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1600767259 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1600770908 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1600772418 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1600783776 RYR1 Health Risk Pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1600785769 KCNQ2 Health Risk Pathogenic Seizure, Early-infantile DEE
RS1600786071 KCNQ2 Health Risk Pathogenic Epileptic encephalopathy, Early-infantile DEE
RS1600786349 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1600786629 COL9A3 Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS1600786748 COL9A3 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS1600787461 RYR1 Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS1600789325 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS1600807788 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS1600822174 RYR1 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS1600823029 ABHD12 Health Risk Pathogenic —
RS1600824259 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1600832922 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1600840291 SYCP2 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, Cryptozoospermia
RS1600842678 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1600843056 RYR1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1600844997 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Malignant hyperthermia
RS1600849412 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS1600856689 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1600861021 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600861681 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600865932 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600866162 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600877766 SYCP2 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, Cryptozoospermia
RS1600886270 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Early-infantile DEE
RS1600887859 DNAJC5 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS1600890487 DOCK6 Health Risk Likely pathogenic —
RS1600892115 RYR1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1600908420 EEF1A2 Health Risk Likely pathogenic EEF1A2-related disorder, EEF1A2-related disorder
RS1600921786 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1600930118 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1600930164 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related disorder
RS1600930323 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1600932676 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1600934347 ADNP Health Risk Pathogenic —
RS1600939486 RIN2 Health Risk Likely pathogenic RIN2 syndrome, RIN2 syndrome
RS1600949818 RYR1 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1600956379 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1600956591 ADNP Health Risk Pathogenic —
RS1600976255 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A
RS1600978441 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS1600982189 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS1600982197 GRIN2D Health Risk Pathogenic Developmental and epileptic encephalopathy, 46
RS1601038626 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS1601038704 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS1601044831 KCNE1 Health Risk Pathogenic Long QT syndrome, Hereditary hearing loss and deafness
RS1601053887 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1601053997 COMP Health Risk Pathogenic —
RS1601054002 COMP Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1601054715 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS1601055900 COMP Health Risk Likely pathogenic —
RS1601055923 COMP Health Risk Likely pathogenic —
RS1601057057 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1601057167 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS1601057491 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS1601057570 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS1601059597 COMP Health Risk Likely pathogenic COMP-related disorder, COMP-related disorder
RS1601070652 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS1601070913 KCNB1 Health Risk Likely pathogenic —
RS1601071071 KCNB1 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1601071085 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS1601071099 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1601071350 KCNB1 Health Risk Likely pathogenic —
RS1601071708 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1601071747 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1601071839 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1601071971 KCNB1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1601072041 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1601101034 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1601113209 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1601115202 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS1601115231 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS1601133145 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1601141002 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1601142505 CTSA Health Risk Pathogenic —
RS1601143502 GDF1 Health Risk Pathogenic Visceral heterotaxy, Visceral heterotaxy
RS1601144527 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1601147280 CACNA1C Health Risk Likely pathogenic CACNA1C-related disorder, CACNA1C-related disorder
RS1601157750 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1601158483 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1601162438 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A
RS1601163749 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS1601163764 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1601164303 GNAS Health Risk Pathogenic —
RS1601164378 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS1601166850 GNAS Health Risk Pathogenic —
RS1601166963 SALL4 Health Risk Pathogenic Oculootoradial syndrome, Oculootoradial syndrome
RS1601168015 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1601168967 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1601170510 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1601170799 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1601171949 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1601176084 PCNT Health Risk Likely pathogenic —
RS1601188789 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601189629 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1601200861 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
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