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rs587777652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTC;TCTC) 0 common in clinvar
Make rs587777652(-;-)
Make rs587777652(-;TCTC)
ReferenceGRCh38 38.1/142
Chromosome6
Position13326878
GeneTBC1D7
is asnp
is mentioned by
dbSNPrs587777652
ebirs587777652
HLIrs587777652
Exacrs587777652
Varsomers587777652
Maprs587777652
PheGenIrs587777652
hapmaprs587777652
1000 genomesrs587777652
hgdprs587777652
ensemblrs587777652
gopubmedrs587777652
geneviewrs587777652
scholarrs587777652
googlers587777652
pharmgkbrs587777652
gwascentralrs587777652
openSNPrs587777652
23andMers587777652
23andMe allrs587777652
SNP Nexus

SNPshotrs587777652
SNPdbers587777652
MSV3drs587777652
GWAS Ctlgrs587777652
Max Magnitude0
ClinVar
Risk rs587777652(;)
Alt rs587777652(;)
Reference rs587777652(TCTC;TCTC)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene TBC1D7 TBC1D7-LOC100130357
CLNDBN Macrocephaly
Reversed 0
HGVS NC_000006.11:g.13327110_13327113delTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000133541.2,