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rs387907347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907347(A;A)
Make rs387907347(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position68879987
GeneACTN1
is asnp
is mentioned by
dbSNPrs387907347
ebirs387907347
HLIrs387907347
Exacrs387907347
Varsomers387907347
Maprs387907347
PheGenIrs387907347
hapmaprs387907347
1000 genomesrs387907347
hgdprs387907347
ensemblrs387907347
gopubmedrs387907347
geneviewrs387907347
scholarrs387907347
googlers387907347
pharmgkbrs387907347
gwascentralrs387907347
openSNPrs387907347
23andMers387907347
23andMe allrs387907347
SNP Nexus

SNPshotrs387907347
SNPdbers387907347
MSV3drs387907347
GWAS Ctlgrs387907347
Max Magnitude0
ClinVar
Risk rs387907347(A;A)
Alt rs387907347(A;A)
Reference rs387907347(G;G)
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.69346704C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034868.28,