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
RS104893964 GJA1 Health Risk Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS104893965 GJA1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect and common atrioventricular junction, Hypoplastic left heart syndrome 1
RS104893966 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS104893967 GUCA1A;GUCA1ANB-GUCA1A Health Risk Likely pathogenic Cone dystrophy 3, Retinitis pigmentosa
RS104893968 GUCA1A;GUCA1ANB-GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Macular dystrophy
RS104893969 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS104893970 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS104893971 NEU1 Health Risk Pathogenic Sialidosis type 1, Sialidosis type 1
RS104893972 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS104893973 IFNGR1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 27A, Mycobacterium tuberculosis
RS104893974 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS104893975 LHFPL5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS104893977 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis type 2, Autosomal recessive NEU1-related disorders
RS104893978 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS104893979 NEU1 Health Risk Pathogenic Sialidosis type 1, Sialidosis type 1
RS104893980 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS104893981 NEU1 Health Risk Likely pathogenic Sialidosis type 2, Sialidosis
RS104893983 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis type 1, Sialidosis type 1
RS104893984 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis
RS104893985 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS104893986 NEU1 Health Risk Pathogenic Sialidosis type 2, NEU1-related disorder
RS104893988 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893989 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893990 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893991 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
RS104893992 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893993 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysplasia 1
RS104893994 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893995 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Cleidocranial dysostosis
RS104893996 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS104893998 TREM2 Health Risk Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS104894001 TREM2 Health Risk Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS104894002 TREM2 Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS104894003 ACTB Health Risk Likely pathogenic Developmental malformations-deafness-dystonia syndrome, Baraitser-Winter syndrome 1
RS104894004 AQP1 Health Risk Pathogenic Colton-null phenotype, Colton-null phenotype
RS104894005 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS104894006 GCK Health Risk Pathogenic Type 2 diabetes mellitus, Maturity-onset diabetes of the young
RS104894008 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS104894009 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS104894010 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus 1
RS104894011 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS104894012 GCK Health Risk Pathogenic Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency
RS104894014 GCK Health Risk Pathogenic Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency
RS104894015 GCK Health Risk Pathogenic Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency
RS104894016 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS104894017 HOXA1 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Bosley-Salih-Alorainy syndrome
RS104894018 HOXA1 Health Risk Pathogenic Human HOXA1 syndromes, Human HOXA1 syndromes
RS104894019 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS104894020 HSPB1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS104894021 KCNH2 Health Risk Pathogenic/Likely pathogenic Short QT syndrome type 1, Short QT syndrome
RS104894023 LEP Health Risk Pathogenic Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
RS104894024 LFNG Health Risk Pathogenic Spondylocostal dysostosis 3, autosomal recessive
RS104894025 NT5C3A Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS104894026 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS104894027 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS104894028 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS104894029 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS104894030 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS104894036 PSPH Health Risk Pathogenic Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS104894040 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894042 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894043 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS104894044 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894045 SHH Health Risk Pathogenic Holoprosencephaly 3, Inborn genetic diseases
RS104894046 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894048 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894049 SHH Health Risk Pathogenic Solitary median maxillary central incisor syndrome, Solitary median maxillary central incisor syndrome
RS104894050 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894051 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS104894052 SHH Health Risk Likely pathogenic Solitary median maxillary central incisor syndrome, Solitary median maxillary central incisor syndrome
RS104894053 SHH Health Risk Pathogenic Holoprosencephaly 3, Solitary median maxillary central incisor syndrome
RS104894054 TWIST1 Health Risk Pathogenic/Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS104894055 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome with eyelid anomalies, Saethre-Chotzen syndrome
RS104894057 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS104894058 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS104894059 TWIST1 Health Risk Pathogenic/Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS104894060 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS104894061 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS104894062 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS104894063 CHRNA2 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS104894064 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8
RS104894065 TWIST1 Health Risk Pathogenic Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
RS104894066 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS104894067 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS104894068 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS104894069 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS104894070 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS104894071 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS104894072 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS104894073 GATA4 Health Risk Pathogenic Atrial septal defect 2, Transposition of the great arteries
RS104894074 GATA4 Health Risk Pathogenic Atrial septal defect 2, Atrial septal defect 2
RS104894075 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS104894076 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS104894077 GDAP1 Health Risk Pathogenic Neuropathy, axonal
RS104894078 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A
RS104894079 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A
RS104894080 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease axonal type 2K
RS104894082 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS104894083 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS104894085 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
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