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rs387907346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907346(A;A)
Make rs387907346(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position68978963
GeneACTN1, ACTN1-AS1
is asnp
is mentioned by
dbSNPrs387907346
ebirs387907346
HLIrs387907346
Exacrs387907346
Varsomers387907346
Maprs387907346
PheGenIrs387907346
hapmaprs387907346
1000 genomesrs387907346
hgdprs387907346
ensemblrs387907346
gopubmedrs387907346
geneviewrs387907346
scholarrs387907346
googlers387907346
pharmgkbrs387907346
gwascentralrs387907346
openSNPrs387907346
23andMers387907346
23andMe allrs387907346
SNP Nexus

SNPshotrs387907346
SNPdbers387907346
MSV3drs387907346
GWAS Ctlgrs387907346
Max Magnitude0
ClinVar
Risk rs387907346(A;A)
Alt rs387907346(A;A)
Reference rs387907346(C;C)
Significance Pathogenic
Disease Platelet-type bleeding disorder 15
Variation info
Gene ACTN1-AS1 ACTN1
CLNDBN Platelet-type bleeding disorder 15
Reversed 1
HGVS NC_000014.8:g.69445680G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034867.28,