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
RS2052734372 BRCA1 Health Risk Pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS2052738000 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2052742922 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2052743077 TSPEAR Health Risk Pathogenic —
RS2052743639 TSPEAR Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 98, Tooth agenesis
RS2052758032 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052759328 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052762437 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052765413 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052765649 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052766776 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052776972 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2052800289 SRCAP Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2052801409 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2052826764 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS2052840352 SHOX Health Risk Likely pathogenic —
RS2052840553 SHOX Health Risk Conflicting classifications of pathogenicity Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS2052845246 SHOX Health Risk Pathogenic —
RS2052856419 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS2052871359 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS2052872878 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2052914931 THSD4 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2052925859 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS2052974883 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2052975031 MYT1L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2052976421 MYT1L Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2052976709 ACD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS2052978830 ACD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS2052980008 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052980434 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052981382 MYT1L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2052983721 MYT1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 39
RS2052993075 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052993184 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052999161 CACNA1C Health Risk Likely pathogenic Conduction disorder of the heart, Conduction disorder of the heart
RS2053019508 CHD2 Health Risk Likely pathogenic —
RS2053027040 CNTNAP1 Health Risk Likely pathogenic —
RS2053027437 TSPEAR Health Risk Pathogenic —
RS2053035301 CNTNAP1 Health Risk Likely pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS2053035860 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2053036372 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2053040180 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2053048647 DYRK1A Health Risk Likely pathogenic —
RS2053050323 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2053054217 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2053061271 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2053064127 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2053066105 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2053066295 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2053081680 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053086109 CNTNAP1 Health Risk Likely pathogenic —
RS2053092574 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2053094101 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2053100837 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2053123483 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2053141794 TRIP12 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2053142075 SRCAP Health Risk Pathogenic —
RS2053146273 MSL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2053150009 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2053152079 DYRK1A Health Risk Conflicting classifications of pathogenicity See cases, DYRK1A-related intellectual disability syndrome
RS2053152483 TRAPPC6B Health Risk Likely pathogenic TRAPPC6B-related disorder, TRAPPC6B-related disorder
RS2053168326 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS2053169420 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2053169650 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2053171807 STEEP1 Health Risk Pathogenic Intellectual disability, X-linked 107
RS2053172723 MSL3 Health Risk Likely pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS2053175099 MSL3 Health Risk Pathogenic Inborn genetic diseases, Basilicata-Akhtar syndrome
RS2053176048 MSL3 Health Risk Pathogenic Neurodevelopmental abnormality, Ovarian serous cystadenocarcinoma
RS2053186315 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2053190428 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2053199279 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2053202354 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2053207945 CHRNA3 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS2053208751 CHRNA3 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS2053227203 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2053228483 PINK1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2053233432 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2053238266 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2053238794 MSL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2053254528 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2053256914 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2053260627 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2053264281 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2053265002 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2053266370 DYRK1A Health Risk Pathogenic —
RS2053266530 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2053286212 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2053293877 EZH1 Health Risk Pathogenic/Likely pathogenic EZH1-related disorder, EZH1-neurodevelopmental syndrome
RS2053305017 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2053306001 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2053315643 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2053320150 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2053325154 CHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2053326002 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2053330207 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2053331144 IPO8 Health Risk Pathogenic VISS syndrome, IPO8 related Connective tissue disorder
RS2053335168 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2053335268 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2053335818 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2053336290 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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