Have questions? Visit https://www.reddit.com/r/SNPedia

rs587780275

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780275(A;A)
Make rs587780275(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position81511392
GeneACTG1, FSCN2
is asnp
is mentioned by
dbSNPrs587780275
ebirs587780275
HLIrs587780275
Exacrs587780275
Varsomers587780275
Maprs587780275
PheGenIrs587780275
hapmaprs587780275
1000 genomesrs587780275
hgdprs587780275
ensemblrs587780275
gopubmedrs587780275
geneviewrs587780275
scholarrs587780275
googlers587780275
pharmgkbrs587780275
gwascentralrs587780275
openSNPrs587780275
23andMers587780275
23andMe allrs587780275
SNP Nexus

SNPshotrs587780275
SNPdbers587780275
MSV3drs587780275
GWAS Ctlgrs587780275
Max Magnitude0
ClinVar
Risk rs587780275(A;A)
Alt rs587780275(A;A)
Reference rs587780275(T;T)
Significance Probable-Pathogenic
Disease Baraitser-Winter Syndrome 2
Variation info
Gene ACTG1
CLNDBN Baraitser-Winter Syndrome 2
Reversed 1
HGVS NC_000017.10:g.79478418A>T
CLNSRC
CLNACC RCV000116227.1,