rs151220873

Orientation

plus

Stabilized

plus

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

Make rs151220873(C;T)

Make rs151220873(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

74486431

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs151220873
dbSNP (classic)	rs151220873
ClinGen	rs151220873
ebi	rs151220873
HLI	rs151220873
Exac	rs151220873
Gnomad	rs151220873
Varsome	rs151220873
LitVar	rs151220873
Map	rs151220873
PheGenI	rs151220873
Biobank	rs151220873
1000 genomes	rs151220873
hgdp	rs151220873
ensembl	rs151220873
geneview	rs151220873
scholar	rs151220873
google	rs151220873
pharmgkb	rs151220873
gwascentral	rs151220873
openSNP	rs151220873
23andMe	rs151220873
SNPshot	rs151220873
SNPdbe	rs151220873
MSV3d	rs151220873
GWAS Ctlg	rs151220873

Max Magnitude

0

ClinVar
Risk	rs151220873(T;T)
Alt	rs151220873(T;T)
Reference	Rs151220873(C;C)
Significance	Probable-Pathogenic
Disease	Brain atrophy Global developmental delay Microcephaly Seizures not specified
Variation	info
Gene	NPC2
CLNDBN	Brain atrophy Global developmental delay Microcephaly Seizures not specified
Reversed	0
HGVS	NC_000014.8:g.74953134C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000162102.1, RCV000362578.1,