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rs1057520601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520601(A;A)
Make rs1057520601(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48448844
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057520601
dbSNP (old)rs1057520601
ClinGenrs1057520601
ebirs1057520601
HLIrs1057520601
Exacrs1057520601
Gnomadrs1057520601
Varsomers1057520601
LitVarrs1057520601
Maprs1057520601
PheGenIrs1057520601
Biobankrs1057520601
1000 genomesrs1057520601
hgdprs1057520601
ensemblrs1057520601
gopubmedrs1057520601
geneviewrs1057520601
scholarrs1057520601
googlers1057520601
pharmgkbrs1057520601
gwascentralrs1057520601
openSNPrs1057520601
23andMers1057520601
23andMe allrs1057520601
SNPshotrs1057520601
SNPdbers1057520601
MSV3drs1057520601
GWAS Ctlgrs1057520601
Max Magnitude0
ClinVar
Risk rs1057520601(A;A)
Alt rs1057520601(A;A)
Reference Rs1057520601(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48741041G>T
CLNSRC
CLNACC RCV000438973.1,