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
RS2132187850 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132189585 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS2132189676 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132190369 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2132191512 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132191644 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132191990 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132194720 PAX5 Health Risk Pathogenic Neurodevelopmental disorder, Leukemia
RS2132195736 CDH23 Health Risk Pathogenic —
RS2132195841 CDH23 Health Risk Pathogenic —
RS2132196113 CDH23 Health Risk Pathogenic —
RS2132200416 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132211574 WHRN Health Risk Pathogenic —
RS2132214841 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS2132219029 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2132230501 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132230601 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132231934 PDSS1 Health Risk Likely pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS2132232095 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132232321 PTEN Health Risk Likely pathogenic See cases, PTEN hamartoma tumor syndrome
RS2132232362 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132232446 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132234958 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132235475 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2132236938 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS2132237228 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2132237554 TSC1 Health Risk Pathogenic —
RS2132238787 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132238960 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Macrocephaly-autism syndrome
RS2132239067 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Breast and/or ovarian cancer
RS2132241893 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132241961 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132241980 PTEN Health Risk Pathogenic Hemimegalencephaly, Hemimegalencephaly
RS2132242075 PTEN Health Risk Pathogenic —
RS2132242363 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132242380 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132242585 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Prostate cancer
RS2132242679 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS2132242699 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132242751 PTEN Health Risk Pathogenic Cowden syndrome 1, Neoplasm
RS2132242979 PTEN Health Risk Likely pathogenic Prostate cancer, hereditary
RS2132243364 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132243411 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2132243523 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132243547 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132243612 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Prostate cancer
RS2132243722 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Prostate cancer
RS2132243942 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Prostate cancer
RS2132244024 PTEN Health Risk Pathogenic —
RS2132244117 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132251312 SET Health Risk Likely pathogenic —
RS2132253074 RBP3 Health Risk Pathogenic —
RS2132253612 RBP3 Health Risk Pathogenic —
RS2132253752 RBP3 Health Risk Pathogenic —
RS2132254606 RBP3 Health Risk Pathogenic —
RS2132255138 RBP3 Health Risk Pathogenic —
RS2132255385 RBP3 Health Risk Pathogenic —
RS2132257029 RBP3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2132258789 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2132264436 TG Health Risk Conflicting classifications of pathogenicity Congenital hypothyroidism, Congenital hypothyroidism
RS2132266748 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132268804 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132268858 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132268865 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132268923 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS2132268956 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132269028 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132269032 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome
RS2132269239 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132269250 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132269329 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132269476 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132269496 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132269501 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132269646 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132269684 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, See cases
RS2132269733 PTEN Health Risk Pathogenic —
RS2132269830 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132269945 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132270005 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132270104 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132275587 STXBP1 Health Risk Conflicting classifications of pathogenicity Seizure, Early-infantile DEE
RS2132275633 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2132275717 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2132276426 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132276430 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132276439 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132276566 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132276578 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132276587 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132276661 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132276683 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2132276692 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2132276818 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132276853 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132277045 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS2132277143 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132277178 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132277407 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132277565 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
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