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rs587777614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777614(-;-)
Make rs587777614(-;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position68416703
GeneDNA2
is asnp
is mentioned by
dbSNPrs587777614
ebirs587777614
HLIrs587777614
Exacrs587777614
Varsomers587777614
Maprs587777614
PheGenIrs587777614
hapmaprs587777614
1000 genomesrs587777614
hgdprs587777614
ensemblrs587777614
gopubmedrs587777614
geneviewrs587777614
scholarrs587777614
googlers587777614
pharmgkbrs587777614
gwascentralrs587777614
openSNPrs587777614
23andMers587777614
23andMe allrs587777614
SNP Nexus

SNPshotrs587777614
SNPdbers587777614
MSV3drs587777614
GWAS Ctlgrs587777614
Max Magnitude0
ClinVar
Risk rs587777614(GT,T;GT,T)
Alt rs587777614(GT,T;GT,T)
Reference rs587777614(CT;CT)
Significance Pathogenic
Disease Seckel syndrome 8 Ateleiotic dwarfism
Variation info
Gene DNA2
CLNDBN Seckel syndrome 8 Ateleiotic dwarfism
Reversed 1
HGVS NC_000010.10:g.70176460delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000133461.4, RCV000162161.2,