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
RS2146497558 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146497910 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146498117 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2146499114 TNRC6B Health Risk Pathogenic —
RS2146499719 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2146500403 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146500556 TNRC6B Health Risk Pathogenic —
RS2146500943 TNRC6B Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2146501061 TNRC6B Health Risk Pathogenic —
RS2146504324 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2146505319 MIB1 Health Risk Likely pathogenic —
RS2146506059 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2146507793 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS2146508910 MIB1 Health Risk Likely pathogenic —
RS2146511357 MIB1 Health Risk Likely pathogenic —
RS2146511363 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2146512032 TNRC6B Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146513906 CYP24A1 Health Risk Pathogenic —
RS2146514141 CYP24A1 Health Risk Pathogenic —
RS2146516794 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146518792 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146525207 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2146526778 ADGRG2 Health Risk Pathogenic Obstructive azoospermia, Obstructive azoospermia
RS2146528200 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2146531776 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS2146534178 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2146538658 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2146541525 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146541571 SMARCA4 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2146543069 SMARCA4 Health Risk Likely pathogenic SMARCA4-related BAFopathy, SMARCA4-related BAFopathy
RS2146543631 ATP6AP2 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
RS2146544783 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2146546594 HPS4 Health Risk Pathogenic —
RS2146547822 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2146548006 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS2146548468 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2146548512 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146553083 HPS4 Health Risk Pathogenic —
RS2146555632 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2146563694 CFAP298 Health Risk Pathogenic Heterotaxy, Heterotaxy
RS2146565741 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146568828 DSCAM Health Risk Likely pathogenic See cases, See cases
RS2146569465 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146570387 TNRC6B Health Risk Pathogenic —
RS2146578225 GDF5 Health Risk Conflicting classifications of pathogenicity GDF5-related disorder, 9 conditions
RS2146578516 GDF5 Health Risk Pathogenic —
RS2146579283 GDF5 Health Risk Pathogenic Brachydactyly type C, Brachydactyly type C
RS2146581345 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146582412 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146582432 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146582443 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146582657 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2146582701 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2146582931 GDF5 Health Risk Pathogenic Grebe syndrome, Grebe syndrome
RS2146583022 GDF5 Health Risk Pathogenic Brachydactyly type C, Brachydactyly type C
RS2146589489 TNFRSF13C Health Risk Likely pathogenic Immunodeficiency, common variable
RS2146591222 COQ9 Health Risk Pathogenic —
RS2146592407 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146592415 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146593421 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146595244 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, autism
RS2146595285 CNOT3 Health Risk Likely pathogenic —
RS2146595540 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146598241 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146598316 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146598341 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146599304 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Epileptic encephalopathy
RS2146599324 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146599339 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2146599361 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2146599371 SMC1A Health Risk Pathogenic —
RS2146599539 SMC1A Health Risk Pathogenic SMC1A-related cohesinopathy, SMC1A-related cohesinopathy
RS2146599562 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2146599602 SMC1A Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2146599709 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146599714 SMC1A Health Risk Likely pathogenic —
RS2146599723 SMC1A Health Risk Likely pathogenic —
RS2146599783 SMC1A Health Risk Pathogenic —
RS2146599836 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146600016 SMC1A Health Risk Pathogenic —
RS2146600076 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146600868 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146603666 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146604602 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146604722 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146604738 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2146605339 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146605369 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146605443 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146605568 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, SMC1A-related disorder
RS2146605644 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146606502 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146606566 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146606642 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146607840 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS2146614137 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2146616137 TLK2 Health Risk Pathogenic —
RS2146616671 TLK2 Health Risk Likely pathogenic —
RS2146617330 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS2146620645 TMEM94 Health Risk Pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
« Prev 1 ... 1872 1873 1874 1875 1876 1877 1878 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →