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rs387907348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907348(A;A)
Make rs387907348(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position68925641
GeneACTN1
is asnp
is mentioned by
dbSNPrs387907348
ebirs387907348
HLIrs387907348
Exacrs387907348
Varsomers387907348
Maprs387907348
PheGenIrs387907348
hapmaprs387907348
1000 genomesrs387907348
hgdprs387907348
ensemblrs387907348
gopubmedrs387907348
geneviewrs387907348
scholarrs387907348
googlers387907348
pharmgkbrs387907348
gwascentralrs387907348
openSNPrs387907348
23andMers387907348
23andMe allrs387907348
SNP Nexus

SNPshotrs387907348
SNPdbers387907348
MSV3drs387907348
GWAS Ctlgrs387907348
Max Magnitude0
ClinVar
Risk rs387907348(A;A)
Alt rs387907348(A;A)
Reference rs387907348(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.69392358C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034869.28,