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
RS2470569953 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470570568 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470572709 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470572798 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470572961 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470573249 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470573260 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470573380 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470573722 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470573909 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470575306 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470580726 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470581058 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470581081 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470582888 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470583786 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470583825 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470595158 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS2470596468 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS2470597641 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470597805 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2470598088 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470598661 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470599000 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2470599366 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470599394 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470599709 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470599861 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470599969 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470600492 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470600527 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470600674 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470600721 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470600722 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470601198 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470601227 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470601344 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470601434 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470601695 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2470602247 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470602625 MLH1 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2470602862 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470603167 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470603317 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470603450 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470603547 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470603562 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470603642 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470603846 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470604197 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470604565 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470604622 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470604692 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470609205 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470610340 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470610350 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470610426 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470612633 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470612697 EDAR Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS2470612710 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470612939 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470612948 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470613018 EDAR Health Risk Likely pathogenic —
RS2470617928 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2470620124 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470620141 ITPR1 Health Risk Conflicting classifications of pathogenicity Gillespie syndrome, Gillespie syndrome
RS2470624288 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2470629154 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470642551 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470644108 STAT4 Health Risk Pathogenic Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
RS2470644258 STAT4 Health Risk Likely pathogenic Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
RS2470644386 STAT4 Health Risk Pathogenic Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
RS2470648962 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470649168 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470651558 SATB1 Health Risk Pathogenic —
RS2470652113 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS2470655524 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS2470656351 SATB1 Health Risk Likely pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS2470657062 ATP2B2 Health Risk Pathogenic —
RS2470658624 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470658884 SATB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2470664645 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2470665200 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS2470671707 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470671979 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470672295 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470672411 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2470672440 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470672531 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2470672727 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2470672915 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470672933 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470672967 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation 1
RS2470673205 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470673227 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470673591 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470673803 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470674011 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470674413 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470674668 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
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