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
RS1554304957 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554304974 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554304979 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1554305000 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554305006 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554305071 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554305719 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1554305880 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1554305937 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554306031 GLI3 Health Risk Pathogenic —
RS1554306093 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1554306094 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1554306288 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554306353 PMS2 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS1554306391 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554306445 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554306525 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554306528 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554306605 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554306620 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554308513 GRM1 Health Risk Likely pathogenic Spinocerebellar ataxia 44, Spinocerebellar ataxia 44
RS1554308880 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS1554309080 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554309086 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554309093 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
RS1554309352 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554310169 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554310242 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554310330 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554310600 TMEM106B Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS1554311394 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1554312483 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554312639 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554312687 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554313639 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1554314581 GLI3 Health Risk Pathogenic —
RS1554314595 GLI3 Health Risk Pathogenic —
RS1554314722 DNAH11 Health Risk Pathogenic —
RS1554314738 CCN6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554315071 GLI3 Health Risk Pathogenic —
RS1554315373 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554316216 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554317002 CDK13 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital heart defects
RS1554317158 GRM1 Health Risk Pathogenic Spinocerebellar ataxia 44, Spinocerebellar ataxia 44
RS1554317931 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1554318136 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554319117 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554320168 CRPPA Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1554320205 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554320318 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554321125 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554322596 GSDME Health Risk Pathogenic/Likely pathogenic —
RS1554325967 GSDME Health Risk Conflicting classifications of pathogenicity —
RS1554326239 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554326263 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554326267 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554326365 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554326755 CDK13 Health Risk Pathogenic Global developmental delay, Inborn genetic diseases
RS1554327181 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554327265 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554327284 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS1554327449 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS1554327573 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554327825 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328206 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328363 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328381 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328459 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328479 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1554328790 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1554328952 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1554328993 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1554329068 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554329078 ACTB Health Risk Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1, Inborn genetic diseases
RS1554329113 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554329182 ACTB Health Risk Likely pathogenic ACTB Haploinsufficiency syndrome, ACTB Haploinsufficiency syndrome
RS1554329216 ACTB Health Risk Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1, Cleft palate
RS1554329269 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, ACTB-related disorder
RS1554329281 ACTB Health Risk Likely pathogenic Inborn genetic diseases, Baraitser-Winter syndrome 1
RS1554329317 ACTB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Baraitser-Winter syndrome 1
RS1554329331 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554329516 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554329523 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554329546 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, ACTB-related disorder
RS1554329552 ACTB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554329554 ACTB Health Risk Likely pathogenic —
RS1554329584 ACTB Health Risk Pathogenic —
RS1554329646 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1554331461 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1554333636 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1554333853 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1554333880 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1554334255 TNXB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1554334301 HOXA2 Health Risk Pathogenic MICROTIA WITHOUT HEARING IMPAIRMENT, MICROTIA WITHOUT HEARING IMPAIRMENT
RS1554334433 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Maturity-onset diabetes of the young
RS1554334539 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554334546 GCK Health Risk Likely pathogenic/Likely risk allele Monogenic diabetes, GCK-related disorder
RS1554334579 GCK Health Risk Likely pathogenic/Likely risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554334610 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554334613 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
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