rs786201003

Orientation

minus

Stabilized

minus

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

Make rs786201003(A;A)

Make rs786201003(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

101083752

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs786201003
dbSNP (classic)	rs786201003
ClinGen	rs786201003
ebi	rs786201003
HLI	rs786201003
Exac	rs786201003
Gnomad	rs786201003
Varsome	rs786201003
LitVar	rs786201003
Map	rs786201003
PheGenI	rs786201003
Biobank	rs786201003
1000 genomes	rs786201003
hgdp	rs786201003
ensembl	rs786201003
geneview	rs786201003
scholar	rs786201003
google	rs786201003
pharmgkb	rs786201003
gwascentral	rs786201003
openSNP	rs786201003
23andMe	rs786201003
SNPshot	rs786201003
SNPdbe	rs786201003
MSV3d	rs786201003
GWAS Ctlg	rs786201003

Max Magnitude

0

ClinVar
Risk	rs786201003(A;A)
Alt	rs786201003(A;A)
Reference	Rs786201003(G;G)
Significance	Pathogenic
Disease	Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face
Variation	info
Gene	NALCN
CLNDBN	Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face, hypotonia, and developmental delay
Reversed	1
HGVS	NC_000013.10:g.101736103C>T
CLNSRC
CLNACC	RCV000167764.1, RCV000224736.1,