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rs1057518887

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518887(A;A)
Make rs1057518887(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position25156851
GeneSEPSECS
is asnp
is mentioned by
dbSNPrs1057518887
dbSNP (old)rs1057518887
ClinGenrs1057518887
ebirs1057518887
HLIrs1057518887
Exacrs1057518887
Gnomadrs1057518887
Varsomers1057518887
Maprs1057518887
PheGenIrs1057518887
Biobankrs1057518887
1000 genomesrs1057518887
hgdprs1057518887
ensemblrs1057518887
gopubmedrs1057518887
geneviewrs1057518887
scholarrs1057518887
googlers1057518887
pharmgkbrs1057518887
gwascentralrs1057518887
openSNPrs1057518887
23andMers1057518887
23andMe allrs1057518887
SNPshotrs1057518887
SNPdbers1057518887
MSV3drs1057518887
GWAS Ctlgrs1057518887
Max Magnitude0
ClinVar
Risk rs1057518887(A;A)
Alt rs1057518887(A;A)
Reference Rs1057518887(G;G)
Significance Probable-Pathogenic
Disease Arthrogryposis multiplex congenita Cerebellar hypoplasia Cerebral hypoplasia Kyphosis Seizures Severe global developmental delay Spinal rigidity
Variation info
Gene SEPSECS
CLNDBN Arthrogryposis multiplex congenita Cerebellar hypoplasia Cerebral hypoplasia Kyphosis Seizures Severe global developmental delay Spinal rigidity
Reversed 1
HGVS NC_000004.11:g.25158473C>T
CLNSRC
CLNACC RCV000415364.1,