rs587777038

Orientation

plus

Stabilized

plus

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

Make rs587777038(A;A)

Make rs587777038(A;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

101144812

Gene

NALCN

is a	snp
is	mentioned by
dbSNP	rs587777038
dbSNP (classic)	rs587777038
ClinGen	rs587777038
ebi	rs587777038
HLI	rs587777038
Exac	rs587777038
Gnomad	rs587777038
Varsome	rs587777038
LitVar	rs587777038
Map	rs587777038
PheGenI	rs587777038
Biobank	rs587777038
1000 genomes	rs587777038
hgdp	rs587777038
ensembl	rs587777038
geneview	rs587777038
scholar	rs587777038
google	rs587777038
pharmgkb	rs587777038
gwascentral	rs587777038
openSNP	rs587777038
23andMe	rs587777038
SNPshot	rs587777038
SNPdbe	rs587777038
MSV3d	rs587777038
GWAS Ctlg	rs587777038

Max Magnitude

0

ClinVar
Risk	rs587777038(A;A)
Alt	rs587777038(A;A)
Reference	Rs587777038(G;G)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	NALCN
CLNDBN	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Reversed	0
HGVS	NC_000013.10:g.101797163G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055644.5,