rs875989927

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;GTGGC)	5	Familial Hypercholesterolemia
(GTGGC;GTGGC)	0	common in clinvar

Make rs875989927(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11116868

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs875989927
dbSNP (classic)	rs875989927
ClinGen	rs875989927
ebi	rs875989927
HLI	rs875989927
Exac	rs875989927
Gnomad	rs875989927
Varsome	rs875989927
LitVar	rs875989927
Map	rs875989927
PheGenI	rs875989927
Biobank	rs875989927
1000 genomes	rs875989927
hgdp	rs875989927
ensembl	rs875989927
geneview	rs875989927
scholar	rs875989927
google	rs875989927
pharmgkb	rs875989927
gwascentral	rs875989927
openSNP	rs875989927
23andMe	rs875989927
SNPshot	rs875989927
SNPdbe	rs875989927
MSV3d	rs875989927
GWAS Ctlg	rs875989927

Max Magnitude

5

ClinVar
Risk	rs875989927(A;A)
Alt	rs875989927(A;A)
Reference	Rs875989927(GTGGC;GTGGC)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227544_11227548delGTGGCinsA
CLNSRC	LDLR @ LOVD
CLNACC	RCV000211678.2,