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
RS2506500559 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506500607 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506500879 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506500998 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506501948 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS2506503909 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506504746 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506505884 PALB2 Health Risk Pathogenic Gastric cancer, Familial cancer of breast
RS2506505979 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506506429 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506506514 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506506605 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506506863 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506506942 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506507300 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506507383 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2506507642 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506508888 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506508979 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506509176 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506511810 PALB2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS2506512121 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506512269 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506512755 SCNN1B Health Risk Likely pathogenic Opsoclonus-myoclonus syndrome, Opsoclonus-myoclonus syndrome
RS2506513116 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506513330 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506513633 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506514549 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506514869 SCNN1B Health Risk Pathogenic Liddle syndrome 1, Liddle syndrome 1
RS2506514993 CYLD Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
RS2506515350 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506515843 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506516970 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506517377 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506518424 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506518476 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506518601 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506519015 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506519342 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506527617 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2506529268 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS2506529308 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS2506529438 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS2506529497 GNAO1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2506530490 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS2506530720 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2506531670 GNAO1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2506533604 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506533950 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506534070 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506534790 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506535967 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506536286 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506536640 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506539351 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506539704 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506539880 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506539952 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506540052 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2506540669 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506540801 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2506564729 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506567176 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506567482 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506568316 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506572115 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2506572642 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2506572755 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506572966 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2506573467 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506575006 OCA2 Health Risk Pathogenic —
RS2506575769 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2506578179 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506584752 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506592783 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506593745 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2506599338 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2506610275 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506610770 SRCAP Health Risk Pathogenic —
RS2506612939 ANK2 Health Risk Pathogenic ANK2-associated Neurodevelopmental Disorder, ANK2-associated Neurodevelopmental Disorder
RS2506619664 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506621905 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506624513 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2506627905 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Developmental delay
RS2506628039 SRCAP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2506635538 SRCAP Health Risk Likely pathogenic —
RS2506639430 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506642569 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS2506665187 SRCAP Health Risk Likely pathogenic —
RS2506669408 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2506673023 ARL6IP1 Health Risk Pathogenic Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
RS2506676388 LAT Health Risk Pathogenic —
RS2506677149 SRCAP Health Risk Likely pathogenic SRCAP-related disorder, SRCAP-related disorder
RS2506681723 LAT Health Risk Pathogenic —
RS2506697045 SRCAP Health Risk Pathogenic —
RS2506697053 SRCAP Health Risk Pathogenic Developmental delay, hypotonia
RS2506702087 RBL2 Health Risk Likely pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS2506716542 CYLD Health Risk Pathogenic Familial cylindromatosis, Familial cylindromatosis
RS2506722059 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506722312 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
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