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LDLR

From SNPedia

is agene
is mentioned by
Full namelow density lipoprotein receptor
EntrezGene3949
PheGenI3949
VariationViewer3949
ClinVarLDLR
GeneCardsLDLR
dbSNP3949
SADR3949
HugeNav3949
wikipediaLDLR
googleLDLR
gopubmedLDLR
EVSLDLR
HEFalMpLDLR
MyGene2LDLR
23andMeLDLR
UniProtP01130
EnsemblENSG00000130164
OMIM606945
# SNPs314
 Max MagnitudeChromosome positionSummary
i400035611,216,234
rs1003723011,113,505
rs112029328411,102,787
rs112366278011,110,650
rs112954220011,120,470
rs113669610011,111,557
rs11669576011,111,624
rs121908024411,100,252
rs121908025411,102,732
rs121908026411,105,436
rs121908027711,105,558
rs121908028411,105,587
rs121908029411,105,588
rs121908030411,107,484
rs121908031411,120,425
rs121908032411,129,562
rs121908033411,105,429
rs121908034411,105,470
rs121908035411,105,599
rs121908036411,113,388
rs121908037411,129,654
rs121908038411,113,293
rs121908039411,105,457
rs121908040411,106,652
rs121908041011,100,292
rs121908042411,105,232
rs121908043411,113,307
rs121908044411,105,527
rs13306512011,107,513
rs13306515011,110,767
rs137853960011,100,303
rs137853961011,113,447
rs137853962011,120,121
rs137853963011,123,264
rs137853964411,129,602
rs137853965411,120,443
rs137853966411,105,559
rs137929307411,116,928
rs137943601411,113,313
rs138315511011,111,538
rs138947766011,116,883
rs139043155411,106,668
rs139089530411,105,414
rs139361635411,110,735
rs139400379011,102,758
rs139507589011,106,628
rs139617694411,113,534
rs139624145411,113,620
rs140241383011,107,432
rs140807148011,105,231
... further results

The LDLR gene encodes the low density lipoprotein receptor, perhaps best known in a genetic sense for its connection to familial hypercholesterolemia (FH). Over 800 mutations or other DNA changes have been observed in the LDLR gene, many associated with FH.

As pointed out in [PMID 17380167], "Only one or two LDLR mutations can genuinely be considered 'mild' (i.e., all carriers of the mutation have milder hypercholesterolemia than most patients with FH). For all other patients with FH caused by LDLR defects, environmental or other inherited factors seem to be more important than the type of mutation in determining the phenotype severity. These are often the same factors that predispose to CHD in the general population (i.e., smoking, low HDL cholesterol level, male sex, and increasing age)."

Note that SNPs in the LDLR gene within SNPedia are in the orientation specified by dbSNP; many publications, though, refer to the opposite orientation. For a list of LDLR-SNPs in SNPedia, click on the "What links here" tab on the left of this page.