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rs1057519089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519089(-;AGGG)
Make rs1057519089(AGGG;AGGG)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position125366841
GeneNSMCE2
is asnp
is mentioned by
dbSNPrs1057519089
dbSNP (classic)rs1057519089
ClinGenrs1057519089
ebirs1057519089
HLIrs1057519089
Exacrs1057519089
Gnomadrs1057519089
Varsomers1057519089
LitVarrs1057519089
Maprs1057519089
PheGenIrs1057519089
Biobankrs1057519089
1000 genomesrs1057519089
hgdprs1057519089
ensemblrs1057519089
geneviewrs1057519089
scholarrs1057519089
googlers1057519089
pharmgkbrs1057519089
gwascentralrs1057519089
openSNPrs1057519089
23andMers1057519089
23andMe allrs1057519089
SNPshotrs1057519089
SNPdbers1057519089
MSV3drs1057519089
GWAS Ctlgrs1057519089
Max Magnitude0
ClinVar
Risk rs1057519089(AGGG;AGGG)
Alt rs1057519089(AGGG;AGGG)
Reference Rs1057519089(-;-)
Significance Pathogenic
Disease Seckel syndrome 10
Variation info
Gene NSMCE2
CLNDBN Seckel syndrome 10
Reversed 0
HGVS NC_000008.10:g.126379080_126379083dupAGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000412587.1,