rs387906306

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;AAATCTGAC)	5	Familial Hypercholesterolemia
(-;AATCTGAC)	5	Familial Hypercholesterolemia
(-;AGGACAAATCTGAC)	5	Familial Hypercholesterolemia
(-;ATCTGAC)	5	Familial Hypercholesterolemia
(-;TGAG)	5	Familial Hypercholesterolemia
(-;TGCAAGGACAAATCTGAC)	5	Familial Hypercholesterolemia

Make rs387906306(TGCAAGGACAAATCTGAC;TGCAAGGACAAATCTGAC)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11105587

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs387906306
dbSNP (classic)	rs387906306
ClinGen	rs387906306
ebi	rs387906306
HLI	rs387906306
Exac	rs387906306
Gnomad	rs387906306
Varsome	rs387906306
LitVar	rs387906306
Map	rs387906306
PheGenI	rs387906306
Biobank	rs387906306
1000 genomes	rs387906306
hgdp	rs387906306
ensembl	rs387906306
geneview	rs387906306
scholar	rs387906306
google	rs387906306
pharmgkb	rs387906306
gwascentral	rs387906306
openSNP	rs387906306
23andMe	rs387906306
SNPshot	rs387906306
SNPdbe	rs387906306
MSV3d	rs387906306
GWAS Ctlg	rs387906306

Max Magnitude

5

aka c.664_681dup18 or p.Asp227_Glu228insCysLysAspLysSerAsp

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

ClinVar
Risk	rs387906306(AAATCTGAC;AAATCTGAC) rs387906306(AATCTGAC;AATCTGAC) rs387906306(AGGACAAATCTGAC;AGGACAAATCTGAC) rs387906306(ATCTGAC;ATCTGAC) rs387906306(TGAG;TGAG) rs387906306(TGCAAGGACAAATCTGAC;TGCAAGGACAAATCTGAC)
Alt	rs387906306(AAATCTGAC;AAATCTGAC) rs387906306(AATCTGAC;AATCTGAC) rs387906306(AGGACAAATCTGAC;AGGACAAATCTGAC) rs387906306(ATCTGAC;ATCTGAC) rs387906306(TGAG;TGAG) rs387906306(TGCAAGGACAAATCTGAC;TGCAAGGACAAATCTGAC)
Reference	Rs387906306(-;-)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216246_11216263dup18; NC_000019.9:g.11216250_11216263dupAGGACAAATCTGAC; NC_000019.9:g.11216255_11216263dupAAATCTGAC; NC_000019.9:g.11216256_11216263dupAATCTGAC; NC_000019.9:g.11216257_11216263dupATCTGAC; NC_000019.9:g.11216263_11216264insTGAG
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003931.6, RCV000238275.1, RCV000238131.1, RCV000237733.1, RCV000238121.1, RCV000237411.1,