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rs1057518673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518673(C;T)
Make rs1057518673(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position81512237
GeneACTG1, FSCN2
is asnp
is mentioned by
dbSNPrs1057518673
dbSNP (old)rs1057518673
ClinGenrs1057518673
ebirs1057518673
HLIrs1057518673
Exacrs1057518673
Gnomadrs1057518673
Varsomers1057518673
Maprs1057518673
PheGenIrs1057518673
Biobankrs1057518673
1000 genomesrs1057518673
hgdprs1057518673
ensemblrs1057518673
gopubmedrs1057518673
geneviewrs1057518673
scholarrs1057518673
googlers1057518673
pharmgkbrs1057518673
gwascentralrs1057518673
openSNPrs1057518673
23andMers1057518673
23andMe allrs1057518673
SNPshotrs1057518673
SNPdbers1057518673
MSV3drs1057518673
GWAS Ctlgrs1057518673
Max Magnitude0
ClinVar
Risk rs1057518673(T;T)
Alt rs1057518673(T;T)
Reference Rs1057518673(C;C)
Significance Probable-Pathogenic
Disease Baraitser-Winter Syndrome 2
Variation info
Gene FSCN2 ACTG1
CLNDBN Baraitser-Winter Syndrome 2
Reversed 1
HGVS NC_000017.10:g.79479263G>A
CLNSRC
CLNACC RCV000415380.1,