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rs1057519424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519424(A;G)
Make rs1057519424(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position37772753
GenePROSC
is asnp
is mentioned by
dbSNPrs1057519424
dbSNP (classic)rs1057519424
ClinGenrs1057519424
ebirs1057519424
HLIrs1057519424
Exacrs1057519424
Gnomadrs1057519424
Varsomers1057519424
LitVarrs1057519424
Maprs1057519424
PheGenIrs1057519424
Biobankrs1057519424
1000 genomesrs1057519424
hgdprs1057519424
ensemblrs1057519424
geneviewrs1057519424
scholarrs1057519424
googlers1057519424
pharmgkbrs1057519424
gwascentralrs1057519424
openSNPrs1057519424
23andMers1057519424
23andMe allrs1057519424
SNPshotrs1057519424
SNPdbers1057519424
MSV3drs1057519424
GWAS Ctlgrs1057519424
Max Magnitude0
ClinVar
Risk rs1057519424(G;G)
Alt rs1057519424(G;G)
Reference Rs1057519424(A;A)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PROSC
CLNDBN Epilepsy, early-onset, vitamin b6-dependent
Reversed 0
HGVS NC_000008.10:g.37630271A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415559.1,