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rs1057517683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517683(C;T)
Make rs1057517683(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position17392121
GenePADI6
is asnp
is mentioned by
dbSNPrs1057517683
dbSNP (classic)rs1057517683
ClinGenrs1057517683
ebirs1057517683
HLIrs1057517683
Exacrs1057517683
Gnomadrs1057517683
Varsomers1057517683
LitVarrs1057517683
Maprs1057517683
PheGenIrs1057517683
Biobankrs1057517683
1000 genomesrs1057517683
hgdprs1057517683
ensemblrs1057517683
geneviewrs1057517683
scholarrs1057517683
googlers1057517683
pharmgkbrs1057517683
gwascentralrs1057517683
openSNPrs1057517683
23andMers1057517683
SNPshotrs1057517683
SNPdbers1057517683
MSV3drs1057517683
GWAS Ctlgrs1057517683
Max Magnitude0
ClinVar
Risk rs1057517683(T;T)
Alt rs1057517683(T;T)
Reference Rs1057517683(C;C)
Significance Pathogenic
Disease Preimplantation embryonic lethality 2
Variation info
Gene PADI6
CLNDBN Preimplantation embryonic lethality 2
Reversed 0
HGVS NC_000001.10:g.17718616C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412549.1,