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rs1057519088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519088(-;-)
Make rs1057519088(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position125182184
GeneNSMCE2
is asnp
is mentioned by
dbSNPrs1057519088
dbSNP (old)rs1057519088
ClinGenrs1057519088
ebirs1057519088
HLIrs1057519088
Exacrs1057519088
Gnomadrs1057519088
Varsomers1057519088
LitVarrs1057519088
Maprs1057519088
PheGenIrs1057519088
Biobankrs1057519088
1000 genomesrs1057519088
hgdprs1057519088
ensemblrs1057519088
gopubmedrs1057519088
geneviewrs1057519088
scholarrs1057519088
googlers1057519088
pharmgkbrs1057519088
gwascentralrs1057519088
openSNPrs1057519088
23andMers1057519088
23andMe allrs1057519088
SNPshotrs1057519088
SNPdbers1057519088
MSV3drs1057519088
GWAS Ctlgrs1057519088
Max Magnitude0
ClinVar
Risk rs1057519088(-;-)
Alt rs1057519088(-;-)
Reference Rs1057519088(T;T)
Significance Pathogenic
Disease Seckel syndrome 10
Variation info
Gene NSMCE2
CLNDBN Seckel syndrome 10
Reversed 0
HGVS NC_000008.10:g.126194426delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412505.1,