rs1057519432

Orientation

minus

Stabilized

minus

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

Make rs1057519432(A;G)

Make rs1057519432(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

101192042

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs1057519432
dbSNP (classic)	rs1057519432
ClinGen	rs1057519432
ebi	rs1057519432
HLI	rs1057519432
Exac	rs1057519432
Gnomad	rs1057519432
Varsome	rs1057519432
LitVar	rs1057519432
Map	rs1057519432
PheGenI	rs1057519432
Biobank	rs1057519432
1000 genomes	rs1057519432
hgdp	rs1057519432
ensembl	rs1057519432
geneview	rs1057519432
scholar	rs1057519432
google	rs1057519432
pharmgkb	rs1057519432
gwascentral	rs1057519432
openSNP	rs1057519432
23andMe	rs1057519432
SNPshot	rs1057519432
SNPdbe	rs1057519432
MSV3d	rs1057519432
GWAS Ctlg	rs1057519432

Max Magnitude

0

ClinVar
Risk	rs1057519432(G;G)
Alt	rs1057519432(G;G)
Reference	Rs1057519432(A;A)
Significance	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.101844393T>C
CLNSRC
CLNACC	RCV000416437.1,