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

rs1060499738

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499738(A;A)
Make rs1060499738(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position100647014
GeneACTL6B
is asnp
is mentioned by
dbSNPrs1060499738
dbSNP (old)rs1060499738
ClinGenrs1060499738
ebirs1060499738
HLIrs1060499738
Exacrs1060499738
Gnomadrs1060499738
Varsomers1060499738
Maprs1060499738
PheGenIrs1060499738
Biobankrs1060499738
1000 genomesrs1060499738
hgdprs1060499738
ensemblrs1060499738
gopubmedrs1060499738
geneviewrs1060499738
scholarrs1060499738
googlers1060499738
pharmgkbrs1060499738
gwascentralrs1060499738
openSNPrs1060499738
23andMers1060499738
23andMe allrs1060499738
SNPshotrs1060499738
SNPdbers1060499738
MSV3drs1060499738
GWAS Ctlgrs1060499738
Max Magnitude0
ClinVar
Risk rs1060499738(A;A)
Alt rs1060499738(A;A)
Reference Rs1060499738(G;G)
Significance Probable-Pathogenic
Disease Global developmental delay Intellectual disability
Variation info
Gene ACTL6B
CLNDBN Global developmental delay Intellectual disability
Reversed 1
HGVS NC_000007.13:g.100244637C>T
CLNSRC
CLNACC RCV000454131.1,