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rs370761964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs370761964(C;C)
Make rs370761964(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position56801931
GeneOTX2
is asnp
is mentioned by
dbSNPrs370761964
ebirs370761964
HLIrs370761964
Exacrs370761964
Varsomers370761964
Maprs370761964
PheGenIrs370761964
hapmaprs370761964
1000 genomesrs370761964
hgdprs370761964
ensemblrs370761964
gopubmedrs370761964
geneviewrs370761964
scholarrs370761964
googlers370761964
pharmgkbrs370761964
gwascentralrs370761964
openSNPrs370761964
23andMers370761964
23andMe allrs370761964
SNP Nexus

SNPshotrs370761964
SNPdbers370761964
MSV3drs370761964
GWAS Ctlgrs370761964
Max Magnitude0
ClinVar
Risk rs370761964(C;C)
Alt rs370761964(C;C)
Reference rs370761964(T;T)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene OTX2
CLNDBN Pituitary hormone deficiency, combined 6
Reversed 0
HGVS NC_000014.8:g.57268649T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022923.5,