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
RS2145140145 CACNA1A Health Risk Likely pathogenic —
RS2145140504 GGN Health Risk Pathogenic Spermatogenic failure 69, Spermatogenic failure 69
RS2145142389 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145142832 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS2145143911 ELANE Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2145144118 ELANE Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2145144144 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS2145145006 ELANE Health Risk Likely pathogenic —
RS2145145135 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS2145147131 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2145148405 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS2145148773 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS2145148879 ELANE Health Risk Pathogenic —
RS2145148969 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS2145149093 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS2145149526 ELANE Health Risk Likely pathogenic Neutropenia, severe congenital
RS2145149748 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2145149815 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS2145169684 PGAP3 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2145173097 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2145173322 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145175361 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2145180670 LAMA3 Health Risk Pathogenic —
RS2145182512 LAMA3 Health Risk Pathogenic —
RS2145184643 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2145190803 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145191308 NFIX Health Risk Likely pathogenic —
RS2145191473 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS2145191499 NFIX Health Risk Pathogenic See cases, See cases
RS2145191618 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2145191691 NFIX Health Risk Likely pathogenic —
RS2145191753 NFIX Health Risk Pathogenic —
RS2145191979 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2145192041 NFIX Health Risk Likely pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2145192459 NFIX Health Risk Pathogenic/Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145192509 NFIX Health Risk Conflicting classifications of pathogenicity Malan overgrowth syndrome, Marshall-Smith syndrome
RS2145192570 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2145192572 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2145192745 NFIX Health Risk Pathogenic/Likely pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2145192782 NFIX Health Risk Likely pathogenic —
RS2145192793 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145192919 NFIX Health Risk Pathogenic —
RS2145210376 INSR Health Risk Likely pathogenic —
RS2145221516 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145223302 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2145224416 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145225250 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145225515 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145225759 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145230737 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145231253 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145232021 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145232689 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145232776 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145232912 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145235661 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145236067 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145236177 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2145238905 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2145239459 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145239498 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145241576 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145242241 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145242325 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2145243385 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145243883 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145244590 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2145244734 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Inborn genetic diseases
RS2145245078 CACNA1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2145245242 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145245392 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2145245448 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145245505 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2145245595 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Spinocerebellar ataxia type 6
RS2145247321 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2145248615 ATCAY Health Risk Pathogenic Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
RS2145250103 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145250113 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145251876 LAMA3 Health Risk Pathogenic —
RS2145252486 LAMA3 Health Risk Likely pathogenic —
RS2145253354 DNMT1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS2145253412 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145253737 DNMT1 Health Risk Pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS2145253839 ASXL3 Health Risk Likely pathogenic —
RS2145254041 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145254277 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145254657 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145256406 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145256501 ATCAY Health Risk Pathogenic —
RS2145256753 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145256864 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145258173 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145258726 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145258824 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145258835 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145258913 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145259879 TYK2 Health Risk Likely pathogenic —
RS2145261406 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS2145261721 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS2145261985 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
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