rs878854416

Orientation

minus

Stabilized

minus

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

Make rs878854416(A;A)

Make rs878854416(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

196242162

Gene

HECW2

is a	snp
is	mentioned by
dbSNP	rs878854416
dbSNP (classic)	rs878854416
ClinGen	rs878854416
ebi	rs878854416
HLI	rs878854416
Exac	rs878854416
Gnomad	rs878854416
Varsome	rs878854416
LitVar	rs878854416
Map	rs878854416
PheGenI	rs878854416
Biobank	rs878854416
1000 genomes	rs878854416
hgdp	rs878854416
ensembl	rs878854416
geneview	rs878854416
scholar	rs878854416
google	rs878854416
pharmgkb	rs878854416
gwascentral	rs878854416
openSNP	rs878854416
23andMe	rs878854416
SNPshot	rs878854416
SNPdbe	rs878854416
MSV3d	rs878854416
GWAS Ctlg	rs878854416

Max Magnitude

0

ClinVar
Risk	rs878854416(A;A)
Alt	rs878854416(A;A)
Reference	Rs878854416(G;G)
Significance	Pathogenic
Disease	Neurodevelopmental disorder with hypotonia
Variation	info
Gene	HECW2
CLNDBN	Neurodevelopmental disorder with hypotonia, seizures, and absent language
Reversed	1
HGVS	NC_000002.11:g.197106886C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415526.1,