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rs587779356

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779356(-;-)
Make rs587779356(-;GG)
Make rs587779356(GG;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position46619677
GeneCRIPT
is asnp
is mentioned by
dbSNPrs587779356
ebirs587779356
HLIrs587779356
Exacrs587779356
Varsomers587779356
Maprs587779356
PheGenIrs587779356
hapmaprs587779356
1000 genomesrs587779356
hgdprs587779356
ensemblrs587779356
gopubmedrs587779356
geneviewrs587779356
scholarrs587779356
googlers587779356
pharmgkbrs587779356
gwascentralrs587779356
openSNPrs587779356
23andMers587779356
23andMe allrs587779356
SNP Nexus

SNPshotrs587779356
SNPdbers587779356
MSV3drs587779356
GWAS Ctlgrs587779356
Max Magnitude0
ClinVar
Risk rs587779356(GG;GG)
Alt rs587779356(GG;GG)
Reference rs587779356(;)
Significance Pathogenic
Disease Ateleiotic dwarfism Short stature with microcephaly and distinctive facies
Variation info
Gene CRIPT
CLNDBN Ateleiotic dwarfism Short stature with microcephaly and distinctive facies
Reversed 0
HGVS NC_000002.11:g.46846816_46846817insGG
CLNSRC OMIM Allelic Variant VariO
CLNACC RCV000115046.1, RCV000116206.2,