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rs1057518117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518117(A;A)
Make rs1057518117(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165373347
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057518117
dbSNP (classic)rs1057518117
ClinGenrs1057518117
ebirs1057518117
HLIrs1057518117
Exacrs1057518117
Gnomadrs1057518117
Varsomers1057518117
LitVarrs1057518117
Maprs1057518117
PheGenIrs1057518117
Biobankrs1057518117
1000 genomesrs1057518117
hgdprs1057518117
ensemblrs1057518117
geneviewrs1057518117
scholarrs1057518117
googlers1057518117
pharmgkbrs1057518117
gwascentralrs1057518117
openSNPrs1057518117
23andMers1057518117
SNPshotrs1057518117
SNPdbers1057518117
MSV3drs1057518117
GWAS Ctlgrs1057518117
Max Magnitude0
ClinVar
Risk rs1057518117(A;A) rs1057518117(C;C)
Alt rs1057518117(A;A) rs1057518117(C;C)
Reference Rs1057518117(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SCN2A
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.166229857G>A; NC_000002.11:g.166229857G>C
CLNSRC
CLNACC RCV000413810.1, RCV000420707.1,