rs1057516040

Orientation

minus

Stabilized

minus

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

Make rs1057516040(A;G)

Make rs1057516040(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

101292052

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs1057516040
dbSNP (classic)	rs1057516040
ClinGen	rs1057516040
ebi	rs1057516040
HLI	rs1057516040
Exac	rs1057516040
Gnomad	rs1057516040
Varsome	rs1057516040
LitVar	rs1057516040
Map	rs1057516040
PheGenI	rs1057516040
Biobank	rs1057516040
1000 genomes	rs1057516040
hgdp	rs1057516040
ensembl	rs1057516040
geneview	rs1057516040
scholar	rs1057516040
google	rs1057516040
pharmgkb	rs1057516040
gwascentral	rs1057516040
openSNP	rs1057516040
23andMe	rs1057516040
SNPshot	rs1057516040
SNPdbe	rs1057516040
MSV3d	rs1057516040
GWAS Ctlg	rs1057516040

Max Magnitude

0

ClinVar
Risk	rs1057516040(G;G)
Alt	rs1057516040(G;G)
Reference	Rs1057516040(A;A)
Significance	Probable-Pathogenic
Disease	Congenital contractures of the limbs and face
Variation	info
Gene	NALCN
CLNDBN	Congenital contractures of the limbs and face, hypotonia, and developmental delay
Reversed	1
HGVS	NC_000013.10:g.101944403T>C
CLNSRC
CLNACC	RCV000408614.1,