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rs1057518799

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518799(-;TGCCAATC)
Make rs1057518799(TGCCAATC;TGCCAATC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position151430715
GenePOGZ
is asnp
is mentioned by
dbSNPrs1057518799
dbSNP (old)rs1057518799
ClinGenrs1057518799
ebirs1057518799
HLIrs1057518799
Exacrs1057518799
Gnomadrs1057518799
Varsomers1057518799
Maprs1057518799
PheGenIrs1057518799
Biobankrs1057518799
1000 genomesrs1057518799
hgdprs1057518799
ensemblrs1057518799
gopubmedrs1057518799
geneviewrs1057518799
scholarrs1057518799
googlers1057518799
pharmgkbrs1057518799
gwascentralrs1057518799
openSNPrs1057518799
23andMers1057518799
23andMe allrs1057518799
SNPshotrs1057518799
SNPdbers1057518799
MSV3drs1057518799
GWAS Ctlgrs1057518799
Max Magnitude0
ClinVar
Risk rs1057518799(TGCCAATC;TGCCAATC)
Alt rs1057518799(TGCCAATC;TGCCAATC)
Reference Rs1057518799(-;-)
Significance Probable-Pathogenic
Disease Hearing impairment Hypothyroidism Intellectual disability Myopia Short metacarpal Short stature Truncal obesity
Variation info
Gene POGZ
CLNDBN Hearing impairment Hypothyroidism Intellectual disability Myopia Short metacarpal Short stature Truncal obesity
Reversed 1
HGVS NC_000001.10:g.151403192_151403199dupGATTGGCA
CLNSRC
CLNACC RCV000414962.1,