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
RS2544071216 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544072093 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544073417 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544075505 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544075614 CNOT1 Health Risk Pathogenic Nuerodevelopment disorder, Nuerodevelopment disorder
RS2544075812 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544075874 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078399 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078566 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078574 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544079230 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544079280 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544080144 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544082178 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544082856 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544085840 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2544088009 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2544088087 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544088140 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544088176 PAFAH1B1 Health Risk Pathogenic —
RS2544088436 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544088649 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544089957 PAFAH1B1 Health Risk Likely pathogenic PAFAH1B1-related disorder, PAFAH1B1-related disorder
RS2544090147 PAFAH1B1 Health Risk Pathogenic —
RS2544094801 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544094857 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544094927 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544094952 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544095196 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544095216 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544095233 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544095343 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544096591 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2544096999 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2544097240 PAFAH1B1 Health Risk Likely pathogenic PAFAH1B1-related disorder, PAFAH1B1-related disorder
RS2544099502 PLD6 Health Risk Likely pathogenic Male infertility, Male infertility
RS2544100125 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544100152 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544102362 PAFAH1B1 Health Risk Pathogenic —
RS2544102391 PAFAH1B1 Health Risk Pathogenic —
RS2544102409 PAFAH1B1 Health Risk Likely pathogenic PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia, PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
RS2544102829 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544102925 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544102983 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544103037 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544103122 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544105371 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544105888 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544105995 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544106209 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544106241 PAFAH1B1 Health Risk Pathogenic —
RS2544106283 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2544106771 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544106929 PAFAH1B1 Health Risk Pathogenic —
RS2544109091 JUP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2544109431 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544109573 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2544111033 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2544111453 CNOT1 Health Risk Pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2544113550 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544113674 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544116954 ANKRD11 Health Risk Likely pathogenic —
RS2544118926 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119560 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119774 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119797 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119852 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544120655 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544120709 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544120712 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544121194 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544121801 PAFAH1B1 Health Risk Pathogenic —
RS2544121917 PAFAH1B1 Health Risk Pathogenic —
RS2544123822 FLCN Health Risk Pathogenic —
RS2544123901 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544124546 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2544125336 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544126036 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544126059 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544126063 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544126103 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544126105 FANCA Health Risk Pathogenic Fanconi anemia, FANCA-related disorder
RS2544126650 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2544127550 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2544129734 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544129886 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544129902 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544130253 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544130417 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544138054 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544138067 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544138264 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544139930 ANKRD11 Health Risk Pathogenic —
RS2544140967 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544141132 PITPNM3 Health Risk Likely pathogenic —
RS2544141326 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544141440 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544142899 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544143033 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544143046 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
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