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
RS2145455397 EFTUD2 Health Risk Pathogenic —
RS2145455429 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145456711 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145457097 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145459429 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2145460853 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145461096 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145461231 LAMA3 Health Risk Pathogenic —
RS2145461642 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2145462890 AP1G1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2145464604 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145464965 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145469964 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145469974 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145471381 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145471794 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145472327 AP1G1 Health Risk Pathogenic Usmani-Riazuddin syndrome, autosomal recessive
RS2145473620 EFTUD2 Health Risk Pathogenic —
RS2145474253 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145474267 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145475371 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2145476207 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145476311 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145476583 NFIX Health Risk Likely pathogenic See cases, See cases
RS2145477468 REEP6 Health Risk Pathogenic —
RS2145477500 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145478387 PIGT Health Risk Likely pathogenic —
RS2145478542 EFTUD2 Health Risk Pathogenic —
RS2145479013 REEP6 Health Risk Pathogenic —
RS2145479265 REEP6 Health Risk Pathogenic —
RS2145479494 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145479688 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145479791 NPC1 Health Risk Likely pathogenic —
RS2145480213 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145480909 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145480981 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145480992 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145481013 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145481803 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145482327 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145482463 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145482955 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145483403 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145483535 KCNQ2 Health Risk Pathogenic —
RS2145484269 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145484584 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145484794 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145484822 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145485704 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2145486022 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145486698 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2145487497 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145487524 EFTUD2 Health Risk Pathogenic —
RS2145487908 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145488506 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145491684 UBA2 Health Risk Pathogenic ACCES syndrome, ACCES syndrome
RS2145492068 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145492753 TNPO2 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145492785 TNPO2 Health Risk Pathogenic Intellectual developmental disorder with hypotonia, impaired speech
RS2145493702 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145495807 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS2145496104 TNPO2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2145496676 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145496726 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145497168 KCNQ2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2145497450 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2145497734 BRD4 Health Risk Pathogenic De Lange syndrome, Thyroid cancer
RS2145499914 BRD4 Health Risk Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS2145500473 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145501058 RTTN Health Risk Pathogenic —
RS2145502127 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145503179 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145503665 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145503668 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145503701 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145503914 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145503920 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145507682 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2145512052 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145512343 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145512676 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145512909 EP300 Health Risk Likely pathogenic Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2
RS2145513922 EP300 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2145515250 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS2145516075 EP300 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2145516079 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145516424 EFTUD2 Health Risk Pathogenic/Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145516660 UBA2 Health Risk Pathogenic ACCES syndrome, ACCES syndrome
RS2145516989 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS2145517131 EFTUD2 Health Risk Pathogenic —
RS2145518271 EP300 Health Risk Likely pathogenic —
RS2145519140 EP300 Health Risk Likely pathogenic —
RS2145519321 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145522089 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145523848 EP300 Health Risk Pathogenic —
RS2145524882 EP300 Health Risk Likely pathogenic —
RS2145525133 AP1G1 Health Risk Pathogenic Usmani-Riazuddin syndrome, autosomal dominant
RS2145525136 AP1G1 Health Risk Pathogenic Usmani-Riazuddin syndrome, autosomal dominant
RS2145525235 AP1G1 Health Risk Conflicting classifications of pathogenicity Usmani-Riazuddin syndrome, autosomal dominant
RS2145525803 LAMA3 Health Risk Pathogenic —
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