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
RS2120361380 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120361642 KMT2D Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2120362095 KMT2D Health Risk Pathogenic —
RS2120362289 KMT2D Health Risk Pathogenic —
RS2120362721 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120365558 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120366654 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120378003 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120383809 NADSYN1 Health Risk Pathogenic —
RS2120386368 KMT2D Health Risk Pathogenic —
RS2120387696 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120388148 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120390748 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120393512 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120394528 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS2120397732 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120403375 KMT2D Health Risk Pathogenic Neurodevelopmental disorder, Kabuki syndrome
RS2120411901 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120418614 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120419993 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120420448 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120423939 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120424870 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120426821 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120429166 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS2120430055 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120430888 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120431099 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120433403 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120435220 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120435996 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120436897 KMT2D Health Risk Pathogenic —
RS2120437179 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120437244 KMT2D Health Risk Pathogenic —
RS2120437427 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS2120437987 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120441127 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120442038 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120442365 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120448780 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS2120449499 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120450900 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS2120451660 KMT2D Health Risk Likely pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120452029 KMT2D Health Risk Likely pathogenic Kabuki syndrome, KMT2D-related disorder
RS2120452118 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120452825 KMT2D Health Risk Pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120453226 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120453489 KMT2D Health Risk Pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120453584 KMT2D Health Risk Pathogenic/Likely pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120454333 KMT2D Health Risk Pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120454881 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120455070 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120455428 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS2120456590 KMT2D Health Risk Likely pathogenic —
RS2120461457 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120462024 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 1
RS2120468268 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with migratory circinate erythema
RS2120468389 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with migratory circinate erythema
RS2120471876 KRT5 Health Risk Pathogenic EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE
RS2120474870 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120475630 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with migratory circinate erythema
RS2120476270 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120477437 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120477465 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120479652 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120480689 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2120481036 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120482282 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS2120484146 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS2120489486 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2120494972 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120499187 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120504102 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120505590 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120511753 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120512857 KMT2D Health Risk Likely pathogenic —
RS2120517648 KMT2D Health Risk Likely pathogenic —
RS2120522545 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120525456 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120527860 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120529379 KMT2D Health Risk Pathogenic —
RS2120533487 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120534874 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120542630 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120542644 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120547138 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120548391 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120551363 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120551414 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120552710 KMT2D Health Risk Pathogenic —
RS2120552716 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120552933 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120553637 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120558174 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120559513 KMT2D Health Risk Pathogenic —
RS2120559859 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS2120560322 KMT2D Health Risk Pathogenic —
RS2120563266 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120567609 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120575149 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
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