rs786203988

Orientation

minus

Stabilized

minus

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

Make rs786203988(A;C)

Make rs786203988(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

101191948

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs786203988
dbSNP (classic)	rs786203988
ClinGen	rs786203988
ebi	rs786203988
HLI	rs786203988
Exac	rs786203988
Gnomad	rs786203988
Varsome	rs786203988
LitVar	rs786203988
Map	rs786203988
PheGenI	rs786203988
Biobank	rs786203988
1000 genomes	rs786203988
hgdp	rs786203988
ensembl	rs786203988
geneview	rs786203988
scholar	rs786203988
google	rs786203988
pharmgkb	rs786203988
gwascentral	rs786203988
openSNP	rs786203988
23andMe	rs786203988
SNPshot	rs786203988
SNPdbe	rs786203988
MSV3d	rs786203988
GWAS Ctlg	rs786203988

Max Magnitude

0

ClinVar
Risk	rs786203988(C;C)
Alt	rs786203988(C;C)
Reference	Rs786203988(A;A)
Significance	Pathogenic
Disease	Congenital contractures of the limbs and face not provided
Variation	info
Gene	NALCN
CLNDBN	Congenital contractures of the limbs and face, hypotonia, and developmental delay not provided
Reversed	1
HGVS	NC_000013.10:g.101844299T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000167532.5, RCV000483507.1,