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rs797044461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044461(-;AACA)
Make rs797044461(AACA;AACA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position147939224
GeneORC4
is asnp
is mentioned by
dbSNPrs797044461
dbSNP (old)rs797044461
ClinGenrs797044461
ebirs797044461
HLIrs797044461
Exacrs797044461
Gnomadrs797044461
Varsomers797044461
Maprs797044461
PheGenIrs797044461
Biobankrs797044461
1000 genomesrs797044461
hgdprs797044461
ensemblrs797044461
gopubmedrs797044461
geneviewrs797044461
scholarrs797044461
googlers797044461
pharmgkbrs797044461
gwascentralrs797044461
openSNPrs797044461
23andMers797044461
23andMe allrs797044461
SNP Nexus

SNPshotrs797044461
SNPdbers797044461
MSV3drs797044461
GWAS Ctlgrs797044461
Max Magnitude0
ClinVar
Risk rs797044461(AACA;AACA)
Alt rs797044461(AACA;AACA)
Reference Rs797044461(-;-)
Significance Pathogenic
Disease Meier-Gorlin syndrome 2
Variation info
Gene ORC4
CLNDBN Meier-Gorlin syndrome 2
Reversed 1
HGVS NC_000002.11:g.148696794_148696797dupTGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023231.3,