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rs387907349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907349(C;T)
Make rs387907349(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position68880030
GeneACTN1
is asnp
is mentioned by
dbSNPrs387907349
ebirs387907349
HLIrs387907349
Exacrs387907349
Varsomers387907349
Maprs387907349
PheGenIrs387907349
hapmaprs387907349
1000 genomesrs387907349
hgdprs387907349
ensemblrs387907349
gopubmedrs387907349
geneviewrs387907349
scholarrs387907349
googlers387907349
pharmgkbrs387907349
gwascentralrs387907349
openSNPrs387907349
23andMers387907349
23andMe allrs387907349
SNP Nexus

SNPshotrs387907349
SNPdbers387907349
MSV3drs387907349
GWAS Ctlgrs387907349
Max Magnitude0
ClinVar
Risk rs387907349(T;T)
Alt rs387907349(T;T)
Reference rs387907349(C;C)
Significance Pathogenic
Disease Platelet-type bleeding disorder 15
Variation info
Gene ACTN1
CLNDBN Platelet-type bleeding disorder 15
Reversed 1
HGVS NC_000014.8:g.69346747G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034870.27,