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
RS2150941343 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150941454 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS2150942168 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS2150942179 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2150942257 LBR Health Risk Pathogenic —
RS2150942322 NTHL1 Health Risk Pathogenic —
RS2150942398 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2150943002 CPLANE1 Health Risk Likely pathogenic —
RS2150945100 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150945343 LBR Health Risk Pathogenic Greenberg dysplasia, Greenberg dysplasia
RS2150945390 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2150945928 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2150946170 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150946263 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150946310 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150946400 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150946533 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150946813 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150947033 NTHL1 Health Risk Pathogenic —
RS2150947077 NTHL1 Health Risk Likely pathogenic —
RS2150947218 NTHL1 Health Risk Pathogenic —
RS2150947238 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2150954061 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS2150957226 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2150957361 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS2150957715 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2150958142 LBR Health Risk Pathogenic Greenberg dysplasia, Greenberg dysplasia
RS2150958177 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, See cases
RS2150962096 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150963039 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS2150964195 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2150964205 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2150964472 RPGRIP1L Health Risk Pathogenic —
RS2150964621 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2150964787 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2150964847 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2150967174 FGFR1 Health Risk Pathogenic —
RS2150967659 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150968520 RLBP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2150970014 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150970257 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150970352 RLBP1 Health Risk Likely pathogenic —
RS2150971085 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2150971257 RLBP1 Health Risk Pathogenic Newfoundland cone-rod dystrophy, Bothnia retinal dystrophy
RS2150972985 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150973810 TSC2 Health Risk Pathogenic —
RS2150974573 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2150976700 TLCD3B Health Risk Pathogenic Cone-rod dystrophy 22, Cone-rod dystrophy 22
RS2150982651 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150983772 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150985143 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2150985744 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150986043 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150986366 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150986957 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150987482 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150988074 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma
RS2150988837 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2150988865 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2150988882 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS2150988956 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS2150988998 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS2150993637 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150993650 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2150994011 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, 12 conditions
RS2150994126 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2150994398 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS2150994409 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150994429 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150994507 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150994688 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150994742 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150994772 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2150994907 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2150995140 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2150995433 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150996143 CYLD Health Risk Likely pathogenic —
RS2150997192 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151005632 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2151009927 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151010859 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151010918 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151010987 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS2151011017 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151011218 TP53 Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2151011624 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151011929 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151011976 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151011995 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Familial cystic renal disease
RS2151012455 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151013564 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151013712 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151013719 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151014223 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151014373 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2151014403 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151014602 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151014901 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151015077 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151015263 CYLD Health Risk Pathogenic Familial cylindromatosis, Familial cylindromatosis
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