rs730882201

Orientation

plus

Stabilized

plus

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

Make rs730882201(A;A)

Make rs730882201(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

30336665

Gene

ARL14EP

is a	snp
is	mentioned by
dbSNP	rs730882201
dbSNP (classic)	rs730882201
ClinGen	rs730882201
ebi	rs730882201
HLI	rs730882201
Exac	rs730882201
Gnomad	rs730882201
Varsome	rs730882201
LitVar	rs730882201
Map	rs730882201
PheGenI	rs730882201
Biobank	rs730882201
1000 genomes	rs730882201
hgdp	rs730882201
ensembl	rs730882201
geneview	rs730882201
scholar	rs730882201
google	rs730882201
pharmgkb	rs730882201
gwascentral	rs730882201
openSNP	rs730882201
23andMe	rs730882201
SNPshot	rs730882201
SNPdbe	rs730882201
MSV3d	rs730882201
GWAS Ctlg	rs730882201

Max Magnitude

0

ClinVar
Risk	rs730882201(A;A)
Alt	rs730882201(A;A)
Reference	Rs730882201(G;G)
Significance	Probable-Pathogenic
Disease	Abnormal facial shape Global developmental delay Microcephaly Truncal obesity not provided
Variation	info
Gene	ARL14EP
CLNDBN	Abnormal facial shape Global developmental delay Microcephaly Truncal obesity not provided
Reversed	0
HGVS	NC_000011.9:g.30358212G>A
CLNSRC
CLNACC	RCV000162105.1, RCV000171460.1,