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rs587779348

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779348(-;-)
Make rs587779348(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position46623767
GeneCRIPT
is asnp
is mentioned by
dbSNPrs587779348
ebirs587779348
HLIrs587779348
Exacrs587779348
Varsomers587779348
Maprs587779348
PheGenIrs587779348
hapmaprs587779348
1000 genomesrs587779348
hgdprs587779348
ensemblrs587779348
gopubmedrs587779348
geneviewrs587779348
scholarrs587779348
googlers587779348
pharmgkbrs587779348
gwascentralrs587779348
openSNPrs587779348
23andMers587779348
23andMe allrs587779348
SNP Nexus

SNPshotrs587779348
SNPdbers587779348
MSV3drs587779348
GWAS Ctlgrs587779348
Max Magnitude0
ClinVar
Risk rs587779348(;)
Alt rs587779348(;)
Reference rs587779348(T;T)
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.46850906delT
CLNSRC OMIM Allelic Variant VariO
CLNACC RCV000115047.1, RCV000116207.2,