rs878853134

Orientation

minus

Stabilized

minus

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

Make rs878853134(A;A)

Make rs878853134(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

101292232

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs878853134
dbSNP (classic)	rs878853134
ClinGen	rs878853134
ebi	rs878853134
HLI	rs878853134
Exac	rs878853134
Gnomad	rs878853134
Varsome	rs878853134
LitVar	rs878853134
Map	rs878853134
PheGenI	rs878853134
Biobank	rs878853134
1000 genomes	rs878853134
hgdp	rs878853134
ensembl	rs878853134
geneview	rs878853134
scholar	rs878853134
google	rs878853134
pharmgkb	rs878853134
gwascentral	rs878853134
openSNP	rs878853134
23andMe	rs878853134
SNPshot	rs878853134
SNPdbe	rs878853134
MSV3d	rs878853134
GWAS Ctlg	rs878853134

Max Magnitude

0

ClinVar
Risk	rs878853134(A;A)
Alt	rs878853134(A;A)
Reference	Rs878853134(C;C)
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.101944583G>T
CLNSRC
CLNACC	RCV000224612.1,