Research
Tag

Calcium

21 genetic variants with this tag.

RSID Gene Description Category
rs1006737 CACNA1C L-type calcium channel gene variant affecting mood regulation, emotional proc... Mood & Behavior Strong
rs12640848 ENAM Intronic variant in the ENAM enamelin gene associated with altered dental car... Dental & Oral Health Moderate
rs17878486 AMELX Intronic variant in amelogenin X-linked gene affecting enamel mineralization ... Dental & Oral Health Moderate
rs198968 KLK4 Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expres... Dental & Oral Health Moderate
rs10405121 CACNA1A Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutate... Neurology & Cognition Strong
rs2235091 KLK4 Intronic variant in kallikrein-4 that encodes the enamel maturation protease;... Dental & Oral Health Moderate
rs17249754 ATP2B1 Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces... Blood Pressure & Hypertension Strong
rs2242670 KLK4 Intronic variant near the KLK4 enamel-maturation protease gene associated wit... Dental & Oral Health Moderate
rs2681472 ATP2B1 Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most... Blood Pressure & Hypertension Strong
rs1600482909 JPH2 Ser101Arg Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar... Cardiomyopathy & Structural Heart Strong
rs3748079 ITPR3 ITPR3 rs3748079 Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a... B-Cell Immunity & Antibody-Mediated Disease Moderate
rs1800012 COL1A1 Sp1 Binding Site Sp1 transcription factor binding site polymorphism affecting collagen product... Fitness & Body Strong
rs2908004 WNT16 Gly82Arg Missense variant in WNT16 that substitutes glycine for arginine at position 8... Fitness & Body Strong
rs3801387 WNT16 Intronic variant affecting cortical bone thickness, bone mineral density, and... Fitness & Body Established
rs41309766 NOTCH1 c.4512del (p.Cys1505fs) Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers... Cardiomyopathy & Structural Heart Strong
rs4988321 LRP5 Val667Met Missense variant in LRP5 that substitutes valine for methionine at position 6... Fitness & Body Moderate
rs587782951 JPH2 Thr161Lys Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti... Cardiomyopathy & Structural Heart Strong
rs63749869 RYR1 R4861H (Arg4861His) RYR1 missense variant causing malignant hyperthermia susceptibility and centr... Fitness & Body Established
rs956572 BCL2 Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression... Mood & Behavior Moderate
rs9594759 TNFSF11 Regulatory variant in the RANKL gene affecting bone mineral density and osteo... Fitness & Body Strong
rs61734410 CACNA1H Pro640Leu Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the L... Neurology & Cognition Moderate