rs878853131

Orientation

minus

Stabilized

minus

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

Make rs878853131(A;A)

Make rs878853131(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

101229481

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs878853131
dbSNP (classic)	rs878853131
ClinGen	rs878853131
ebi	rs878853131
HLI	rs878853131
Exac	rs878853131
Gnomad	rs878853131
Varsome	rs878853131
LitVar	rs878853131
Map	rs878853131
PheGenI	rs878853131
Biobank	rs878853131
1000 genomes	rs878853131
hgdp	rs878853131
ensembl	rs878853131
geneview	rs878853131
scholar	rs878853131
google	rs878853131
pharmgkb	rs878853131
gwascentral	rs878853131
openSNP	rs878853131
23andMe	rs878853131
SNPshot	rs878853131
SNPdbe	rs878853131
MSV3d	rs878853131
GWAS Ctlg	rs878853131

Max Magnitude

0

ClinVar
Risk	rs878853131(A;A)
Alt	rs878853131(A;A)
Reference	Rs878853131(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.101881832G>T
CLNSRC
CLNACC	RCV000224900.1,