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rs199823175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199823175(G;T)
Make rs199823175(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position44942213
GeneSIX3, SIX3-AS1
is asnp
is mentioned by
dbSNPrs199823175
ebirs199823175
HLIrs199823175
Exacrs199823175
Varsomers199823175
Maprs199823175
PheGenIrs199823175
hapmaprs199823175
1000 genomesrs199823175
hgdprs199823175
ensemblrs199823175
gopubmedrs199823175
geneviewrs199823175
scholarrs199823175
googlers199823175
pharmgkbrs199823175
gwascentralrs199823175
openSNPrs199823175
23andMers199823175
23andMe allrs199823175
SNP Nexus

SNPshotrs199823175
SNPdbers199823175
MSV3drs199823175
GWAS Ctlgrs199823175
Max Magnitude0
ClinVar
Risk rs199823175(T;T)
Alt rs199823175(T;T)
Reference rs199823175(G;G)
Significance Pathogenic
Disease Holoprosencephaly 2 SCHIZENCEPHALY Single upper central incisor not specified
Variation info
Gene SIX3 SIX3-AS1
CLNDBN Holoprosencephaly 2 SCHIZENCEPHALY Single upper central incisor not specified
Reversed 0
HGVS NC_000002.11:g.45169352G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023330.2, RCV000023331.2, RCV000171135.1, RCV000173372.1,