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
RS2118045103 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118047238 CEP78 Health Risk Pathogenic —
RS2118053654 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118054723 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2118057608 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118060990 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118062649 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118088023 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118088248 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118094139 PTCH1 Health Risk Likely pathogenic —
RS2118125388 ROR2 Health Risk Pathogenic —
RS2118125646 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118126851 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118181420 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS2118219355 CEP78 Health Risk Likely pathogenic —
RS2118223353 TYRP1 Health Risk Pathogenic —
RS2118243943 CEP78 Health Risk Pathogenic —
RS2118247787 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118248031 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118251139 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118255495 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118255799 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS2118259496 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118262541 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118276763 GNAQ Health Risk Pathogenic/Likely pathogenic Sturge-Weber syndrome, Sturge-Weber syndrome
RS2118279350 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118283647 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118284014 TMC1 Health Risk Likely pathogenic —
RS2118284330 TMC1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS2118285458 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118302461 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118303436 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118304794 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118306407 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118311257 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118311917 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118317438 CEP78 Health Risk Pathogenic —
RS2118318502 TMC1 Health Risk Pathogenic —
RS2118329441 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118330477 PTCH1 Health Risk Pathogenic Basal cell nevus syndrome 1, Basal cell nevus syndrome 1
RS2118331448 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS2118332288 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118332973 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118333206 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118336503 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS2118337307 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118338419 PTCH1 Health Risk Pathogenic Gorlin syndrome, See cases
RS2118338822 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118341677 CEP78 Health Risk Pathogenic —
RS2118341777 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118342191 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118342944 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118343224 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118345193 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118345550 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118346335 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118346537 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118350958 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118354551 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118354587 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118355498 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118355570 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118358456 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118358565 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118362340 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118362726 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118362762 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118364366 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118365442 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS2118366070 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118366284 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118366288 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118377686 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2118387037 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118387075 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118388096 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118388351 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118388624 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118389988 PTCH1 Health Risk Pathogenic —
RS2118391142 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118391725 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118392260 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118412052 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118413937 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118414186 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118414391 RORB Health Risk Pathogenic —
RS2118414471 RORB Health Risk Pathogenic —
RS2118418344 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118419579 PTCH1 Health Risk Pathogenic Basal cell nevus syndrome 1, Basal cell nevus syndrome 1
RS2118420430 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118420718 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118420890 PTCH1 Health Risk Pathogenic —
RS2118423280 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118427012 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118427528 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118427859 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118429101 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118433023 RORB Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS2118433165 RORB Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS2118433369 RORB Health Risk Likely pathogenic —
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