rs1057518801

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057518801(C;C)

Make rs1057518801(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165130238

Gene

SCN3A

is a	snp
is	mentioned by
dbSNP	rs1057518801
dbSNP (classic)	rs1057518801
ClinGen	rs1057518801
ebi	rs1057518801
HLI	rs1057518801
Exac	rs1057518801
Gnomad	rs1057518801
Varsome	rs1057518801
LitVar	rs1057518801
Map	rs1057518801
PheGenI	rs1057518801
Biobank	rs1057518801
1000 genomes	rs1057518801
hgdp	rs1057518801
ensembl	rs1057518801
geneview	rs1057518801
scholar	rs1057518801
google	rs1057518801
pharmgkb	rs1057518801
gwascentral	rs1057518801
openSNP	rs1057518801
23andMe	rs1057518801
SNPshot	rs1057518801
SNPdbe	rs1057518801
MSV3d	rs1057518801
GWAS Ctlg	rs1057518801

Max Magnitude

0

ClinVar
Risk	rs1057518801(C;C)
Alt	rs1057518801(C;C)
Reference	Rs1057518801(T;T)
Significance	Probable-Pathogenic
Disease	Developmental delay Polymicrogyria not provided
Variation	info
Gene	SCN2A SCN3A
CLNDBN	Developmental delay Polymicrogyria not provided
Reversed	1
HGVS	NC_000002.11:g.165986748A>G
CLNSRC
CLNACC	RCV000415038.1, RCV000494116.1,