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rs387907345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907345(A;A)
Make rs387907345(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position68921033
GeneACTN1
is asnp
is mentioned by
dbSNPrs387907345
ebirs387907345
HLIrs387907345
Exacrs387907345
Varsomers387907345
Maprs387907345
PheGenIrs387907345
hapmaprs387907345
1000 genomesrs387907345
hgdprs387907345
ensemblrs387907345
gopubmedrs387907345
geneviewrs387907345
scholarrs387907345
googlers387907345
pharmgkbrs387907345
gwascentralrs387907345
openSNPrs387907345
23andMers387907345
23andMe allrs387907345
SNP Nexus

SNPshotrs387907345
SNPdbers387907345
MSV3drs387907345
GWAS Ctlgrs387907345
Max Magnitude0
ClinVar
Risk rs387907345(A;A)
Alt rs387907345(A;A)
Reference rs387907345(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.69387750C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034866.28,