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rs387907350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907350(A;A)
Make rs387907350(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position68904658
GeneACTN1
is asnp
is mentioned by
dbSNPrs387907350
ebirs387907350
HLIrs387907350
Exacrs387907350
Varsomers387907350
Maprs387907350
PheGenIrs387907350
hapmaprs387907350
1000 genomesrs387907350
hgdprs387907350
ensemblrs387907350
gopubmedrs387907350
geneviewrs387907350
scholarrs387907350
googlers387907350
pharmgkbrs387907350
gwascentralrs387907350
openSNPrs387907350
23andMers387907350
23andMe allrs387907350
SNP Nexus

SNPshotrs387907350
SNPdbers387907350
MSV3drs387907350
GWAS Ctlgrs387907350
Max Magnitude0
ClinVar
Risk rs387907350(A;A)
Alt rs387907350(A;A)
Reference rs387907350(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.69371375C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034871.28,