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
RS2145526252 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145527060 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145527075 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145528028 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS2145530654 TAF4 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2145532417 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145536487 TCN2 Health Risk Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2145536721 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2145536823 TCN2 Health Risk Likely pathogenic —
RS2145537667 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2145541064 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS2145541173 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145542063 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS2145542277 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS2145544354 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145544570 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145544950 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145545066 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Centronuclear myopathy
RS2145545140 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2145547209 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145547234 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145547478 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145547497 KCNQ2 Health Risk Likely pathogenic Seizure, Seizure
RS2145548128 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2145548219 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145550047 TNPO2 Health Risk Pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145550093 TNPO2 Health Risk Pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145552247 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145552346 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145555670 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145556764 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145556956 KCNQ2 Health Risk Likely pathogenic —
RS2145557228 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145557980 UBA2 Health Risk Pathogenic ACCES syndrome, ACCES syndrome
RS2145558864 EFTUD2 Health Risk Pathogenic —
RS2145562180 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145564113 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS2145567008 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS2145567535 NOG Health Risk Likely pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS2145567621 NOG Health Risk Pathogenic NOG-related disorder, NOG-related disorder
RS2145578013 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS2145581806 EFTUD2 Health Risk Likely pathogenic See cases, See cases
RS2145582779 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145585588 RYR1 Health Risk Likely pathogenic —
RS2145586693 WDR62 Health Risk Pathogenic —
RS2145586826 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS2145586850 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145587855 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2145591069 ATP6V0A1 Health Risk Conflicting classifications of pathogenicity Seizure, Global developmental delay
RS2145591077 WDR62 Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2145592791 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2145593522 LAMA3 Health Risk Pathogenic —
RS2145595063 CD40 Health Risk Pathogenic Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS2145598769 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145600541 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145600619 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2145601896 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2145603843 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145606794 RYR1 Health Risk Pathogenic RYR1-related myopathy, RYR1-related myopathy
RS2145613542 TRIM37 Health Risk Likely pathogenic See cases, Mulibrey nanism syndrome
RS2145613555 BRD4 Health Risk Likely pathogenic —
RS2145613736 RTTN Health Risk Pathogenic —
RS2145614282 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145614578 RYR1 Health Risk Likely pathogenic —
RS2145620702 BCAS3;BCAS3-AS1 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2145621443 C19orf12 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
RS2145623001 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS2145623030 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with epilepsy, cataracts
RS2145623385 NACC1 Health Risk Pathogenic —
RS2145623884 NACC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2145624427 NACC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2145625749 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with epilepsy, cataracts
RS2145625752 NACC1 Health Risk Conflicting classifications of pathogenicity —
RS2145626399 NACC1 Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy, cataracts
RS2145632623 GFAP Health Risk Likely pathogenic Progressive ventriculomegaly, Progressive ventriculomegaly
RS2145632673 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS2145634031 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145636004 RYR1 Health Risk Pathogenic —
RS2145636962 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145637388 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS2145637412 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145637592 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145637609 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145638522 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145639419 C19orf12 Health Risk Likely pathogenic Hereditary spastic paraplegia 43, Hereditary spastic paraplegia 43
RS2145642617 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS2145643810 RYR1 Health Risk Likely pathogenic —
RS2145649990 SLC32A1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Seizure
RS2145650002 SLC32A1 Health Risk Pathogenic Seizure, Intellectual disability
RS2145650130 SLC32A1 Health Risk Likely pathogenic Intellectual disability, Seizure
RS2145659049 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2145662712 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145663047 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS2145663057 MCM3AP Health Risk Pathogenic —
RS2145664236 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145664555 MCM3AP Health Risk Pathogenic —
RS2145665305 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS2145667073 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145667857 KDM4B Health Risk Likely pathogenic —
RS2145671289 PLA2G6 Health Risk Likely pathogenic —
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