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rs397515502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCCAGCAAG;CCCCAGCAAG) 0 common in clinvar
Make rs397515502(-;-)
Make rs397515502(-;CCCCAGCAAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position44942800
GeneSIX3, SIX3-AS1
is asnp
is mentioned by
dbSNPrs397515502
ebirs397515502
HLIrs397515502
Exacrs397515502
Varsomers397515502
Maprs397515502
PheGenIrs397515502
hapmaprs397515502
1000 genomesrs397515502
hgdprs397515502
ensemblrs397515502
gopubmedrs397515502
geneviewrs397515502
scholarrs397515502
googlers397515502
pharmgkbrs397515502
gwascentralrs397515502
openSNPrs397515502
23andMers397515502
23andMe allrs397515502
SNP Nexus

SNPshotrs397515502
SNPdbers397515502
MSV3drs397515502
GWAS Ctlgrs397515502
Max Magnitude0
ClinVar
Risk rs397515502(;)
Alt rs397515502(;)
Reference rs397515502(CCCCAGCAAG;CCCCAGCAAG)
Significance Pathogenic
Disease Holoprosencephaly 2
Variation info
Gene SIX3 SIX3-AS1
CLNDBN Holoprosencephaly 2
Reversed 0
HGVS NC_000002.11:g.45169939_45169948delCCCCAGCAAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000055688.1,