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rs375009082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs375009082(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120480
GeneLDLR
is asnp
is mentioned by
dbSNPrs375009082
ebirs375009082
HLIrs375009082
Exacrs375009082
Varsomers375009082
Maprs375009082
PheGenIrs375009082
hapmaprs375009082
1000 genomesrs375009082
hgdprs375009082
ensemblrs375009082
gopubmedrs375009082
geneviewrs375009082
scholarrs375009082
googlers375009082
pharmgkbrs375009082
gwascentralrs375009082
openSNPrs375009082
23andMers375009082
23andMe allrs375009082
SNP Nexus

SNPshotrs375009082
SNPdbers375009082
MSV3drs375009082
GWAS Ctlgrs375009082
Max Magnitude4
aka c.2098G>A, p.Asp700Asn or D700N

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs375009082(A;A)
Alt rs375009082(A;A)
Reference rs375009082(G;G)
Significance Pathogenic
Disease not specified Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not specified Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231156G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000182344.2, RCV000238290.1,