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rs749038326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar
(G;T) 5 Familial Hypercholesterolemia
Make rs749038326(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102741
GeneLDLR
is asnp
is mentioned by
dbSNPrs749038326
dbSNP (classic)rs749038326
ClinGenrs749038326
ebirs749038326
HLIrs749038326
Exacrs749038326
Gnomadrs749038326
Varsomers749038326
LitVarrs749038326
Maprs749038326
PheGenIrs749038326
Biobankrs749038326
1000 genomesrs749038326
hgdprs749038326
ensemblrs749038326
geneviewrs749038326
scholarrs749038326
googlers749038326
pharmgkbrs749038326
gwascentralrs749038326
openSNPrs749038326
23andMers749038326
23andMe allrs749038326
SNPshotrs749038326
SNPdbers749038326
MSV3drs749038326
GWAS Ctlgrs749038326
Max Magnitude5

aka c.268G>T (p.Asp90Tyr) and also c.268G>A (p.Asp90Asn); both are considered likely to be pathogenic for FH in ClinVar

23andMe name for c.268G>A: i5000142

ClinVar
Risk rs749038326(A;A) rs749038326(T;T)
Alt rs749038326(A;A) rs749038326(T;T)
Reference Rs749038326(G;G)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11213417G>A; NC_000019.9:g.11213417G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238573.2, RCV000494304.1, RCV000237660.1,