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rs1057518681

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518681(A;G)
Make rs1057518681(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position143816821
GenePUF60, SCRIB
is asnp
is mentioned by
dbSNPrs1057518681
dbSNP (old)rs1057518681
ClinGenrs1057518681
ebirs1057518681
HLIrs1057518681
Exacrs1057518681
Gnomadrs1057518681
Varsomers1057518681
Maprs1057518681
PheGenIrs1057518681
Biobankrs1057518681
1000 genomesrs1057518681
hgdprs1057518681
ensemblrs1057518681
gopubmedrs1057518681
geneviewrs1057518681
scholarrs1057518681
googlers1057518681
pharmgkbrs1057518681
gwascentralrs1057518681
openSNPrs1057518681
23andMers1057518681
23andMe allrs1057518681
SNPshotrs1057518681
SNPdbers1057518681
MSV3drs1057518681
GWAS Ctlgrs1057518681
Max Magnitude0
ClinVar
Risk rs1057518681(G;G)
Alt rs1057518681(G;G)
Reference Rs1057518681(A;A)
Significance Pathogenic
Disease Verheij syndrome not provided
Variation info
Gene SCRIB PUF60
CLNDBN Verheij syndrome not provided
Reversed 1
HGVS NC_000008.10:g.144898991T>C
CLNSRC
CLNACC RCV000415139.1, RCV000488439.1,