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rs483352922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352922(-;-)
Make rs483352922(-;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position13307727
GeneTBC1D7
is asnp
is mentioned by
dbSNPrs483352922
ebirs483352922
HLIrs483352922
Exacrs483352922
Varsomers483352922
Maprs483352922
PheGenIrs483352922
hapmaprs483352922
1000 genomesrs483352922
hgdprs483352922
ensemblrs483352922
gopubmedrs483352922
geneviewrs483352922
scholarrs483352922
googlers483352922
pharmgkbrs483352922
gwascentralrs483352922
openSNPrs483352922
23andMers483352922
23andMe allrs483352922
SNP Nexus

SNPshotrs483352922
SNPdbers483352922
MSV3drs483352922
GWAS Ctlgrs483352922
Max Magnitude0
ClinVar
Risk rs483352922(;)
Alt rs483352922(;)
Reference rs483352922(T;T)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene TBC1D7 TBC1D7-LOC100130357
CLNDBN Macrocephaly
Reversed 1
HGVS NC_000006.11:g.13307959delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000074505.5,