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
RS1554683108 PLEC Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex
RS1554683130 PLEC Health Risk Likely pathogenic PLEC-related disorder, PLEC-related disorder
RS1554683650 ELN Health Risk Pathogenic —
RS1554685903 GNA14 Health Risk Pathogenic Congenital tufted angioma, Pyogenic granuloma
RS1554686162 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1554686365 PSAT1 Health Risk Pathogenic PSAT deficiency, PSAT deficiency
RS1554686620 PLEC Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS1554687151 DOCK8 Health Risk Pathogenic —
RS1554687431 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1554688167 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554688473 KAT6A Health Risk Pathogenic —
RS1554688570 KAT6A Health Risk Pathogenic —
RS1554688700 ELN Health Risk Likely pathogenic —
RS1554688879 KAT6A Health Risk Pathogenic/Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1554689309 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554689313 GABBR2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with poor language and loss of hand skills, Developmental and epileptic encephalopathy
RS1554689315 GABBR2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 59
RS1554689319 GABBR2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 59
RS1554689320 GABBR2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 59
RS1554689404 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554689498 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554689667 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554689806 PLEC Health Risk Likely pathogenic —
RS1554689877 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS1554689964 TRAPPC9 Health Risk Pathogenic/Likely pathogenic TRAPPC9-related disorder, TRAPPC9-related disorder
RS1554690016 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS1554690411 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554690484 PTCH1 Health Risk Pathogenic —
RS1554690494 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1554691029 PLEC Health Risk Pathogenic Myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS1554691354 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554691359 PTCH1 Health Risk Pathogenic Inborn genetic diseases, Gorlin syndrome
RS1554691423 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554691572 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS1554691658 PTCH1 Health Risk Likely pathogenic Holoprosencephaly 7, Holoprosencephaly 7
RS1554691694 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554691698 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554692181 ELP1 Health Risk Likely pathogenic —
RS1554692266 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554692291 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554693937 PLEC Health Risk Pathogenic —
RS1554694264 HSD17B3 Health Risk Pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS1554694678 HSD17B3 Health Risk Likely pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS1554694966 PTCH1 Health Risk Pathogenic —
RS1554695039 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554695110 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1554695233 PTCH1 Health Risk Pathogenic —
RS1554695251 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554695299 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554695612 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554695846 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554696574 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554696648 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554696650 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554696687 ABCA1 Health Risk Pathogenic —
RS1554696934 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS1554697001 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554697839 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554697928 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698037 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554698213 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1554698258 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698260 PTCH1 Health Risk Pathogenic Inborn genetic diseases, Gorlin syndrome
RS1554698288 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554698470 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1554698531 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698582 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698587 PTCH1 Health Risk Pathogenic —
RS1554698613 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698658 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1554698681 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1554698774 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698800 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554698837 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1554698878 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Inborn genetic diseases
RS1554698926 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554699216 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554699269 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554699296 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554699327 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554699334 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554699378 HNRNPK Health Risk Likely pathogenic —
RS1554699491 AGTPBP1 Health Risk Pathogenic AGTPBP1-related disorder, Neurodegeneration
RS1554699612 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554699638 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554699837 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554699964 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554699969 PTCH1 Health Risk Pathogenic —
RS1554700010 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554700574 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1554700603 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554700630 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554700634 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554700647 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554700672 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554700678 HNRNPK Health Risk Conflicting classifications of pathogenicity Au-Kline syndrome, Inborn genetic diseases
RS1554700718 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1554700720 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554700724 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554700742 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
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