rs1057519433

Orientation

minus

Stabilized

minus

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

Make rs1057519433(C;C)

Make rs1057519433(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

101292072

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs1057519433
dbSNP (classic)	rs1057519433
ClinGen	rs1057519433
ebi	rs1057519433
HLI	rs1057519433
Exac	rs1057519433
Gnomad	rs1057519433
Varsome	rs1057519433
LitVar	rs1057519433
Map	rs1057519433
PheGenI	rs1057519433
Biobank	rs1057519433
1000 genomes	rs1057519433
hgdp	rs1057519433
ensembl	rs1057519433
geneview	rs1057519433
scholar	rs1057519433
google	rs1057519433
pharmgkb	rs1057519433
gwascentral	rs1057519433
openSNP	rs1057519433
23andMe	rs1057519433
SNPshot	rs1057519433
SNPdbe	rs1057519433
MSV3d	rs1057519433
GWAS Ctlg	rs1057519433

Max Magnitude

0

ClinVar
Risk	rs1057519433(C;C)
Alt	rs1057519433(C;C)
Reference	Rs1057519433(T;T)
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.101944423A>G
CLNSRC
CLNACC	RCV000416463.1,