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rs752434998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs752434998(-;-)
Make rs752434998(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position57198243
GeneHESX1
is asnp
is mentioned by
dbSNPrs752434998
dbSNP (classic)rs752434998
ClinGenrs752434998
ebirs752434998
HLIrs752434998
Exacrs752434998
Gnomadrs752434998
Varsomers752434998
LitVarrs752434998
Maprs752434998
PheGenIrs752434998
Biobankrs752434998
1000 genomesrs752434998
hgdprs752434998
ensemblrs752434998
geneviewrs752434998
scholarrs752434998
googlers752434998
pharmgkbrs752434998
gwascentralrs752434998
openSNPrs752434998
23andMers752434998
SNPshotrs752434998
SNPdbers752434998
MSV3drs752434998
GWAS Ctlgrs752434998
Max Magnitude0
ClinVar
Risk rs752434998(-;-)
Alt rs752434998(-;-)
Reference Rs752434998(TG;TG)
Significance Pathogenic
Disease Septo-optic dysplasia sequence
Variation info
Gene HESX1
CLNDBN Septo-optic dysplasia sequence
Reversed 0
HGVS NC_000003.11:g.57232271_57232272delTG
CLNSRC
CLNACC RCV000178201.1,