rs1057518887

Orientation

minus

Stabilized

minus

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

Make rs1057518887(A;A)

Make rs1057518887(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

25156851

Gene

SEPSECS

is a	snp
is	mentioned by
dbSNP	rs1057518887
dbSNP (classic)	rs1057518887
ClinGen	rs1057518887
ebi	rs1057518887
HLI	rs1057518887
Exac	rs1057518887
Gnomad	rs1057518887
Varsome	rs1057518887
LitVar	rs1057518887
Map	rs1057518887
PheGenI	rs1057518887
Biobank	rs1057518887
1000 genomes	rs1057518887
hgdp	rs1057518887
ensembl	rs1057518887
geneview	rs1057518887
scholar	rs1057518887
google	rs1057518887
pharmgkb	rs1057518887
gwascentral	rs1057518887
openSNP	rs1057518887
23andMe	rs1057518887
SNPshot	rs1057518887
SNPdbe	rs1057518887
MSV3d	rs1057518887
GWAS Ctlg	rs1057518887

Max Magnitude

0

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,