rs878853130

Orientation

minus

Stabilized

minus

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

Make rs878853130(C;C)

Make rs878853130(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

101103212

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs878853130
dbSNP (classic)	rs878853130
ClinGen	rs878853130
ebi	rs878853130
HLI	rs878853130
Exac	rs878853130
Gnomad	rs878853130
Varsome	rs878853130
LitVar	rs878853130
Map	rs878853130
PheGenI	rs878853130
Biobank	rs878853130
1000 genomes	rs878853130
hgdp	rs878853130
ensembl	rs878853130
geneview	rs878853130
scholar	rs878853130
google	rs878853130
pharmgkb	rs878853130
gwascentral	rs878853130
openSNP	rs878853130
23andMe	rs878853130
SNPshot	rs878853130
SNPdbe	rs878853130
MSV3d	rs878853130
GWAS Ctlg	rs878853130

Max Magnitude

0

ClinVar
Risk	rs878853130(C;C)
Alt	rs878853130(C;C)
Reference	Rs878853130(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.101755563A>G
CLNSRC
CLNACC	RCV000224757.1,