rs201785518

Orientation

plus

Stabilized

plus

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

Make rs201785518(A;A)

Make rs201785518(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

132729818

Gene

ANKLE2

is a	snp
is	mentioned by
dbSNP	rs201785518
dbSNP (classic)	rs201785518
ClinGen	rs201785518
ebi	rs201785518
HLI	rs201785518
Exac	rs201785518
Gnomad	rs201785518
Varsome	rs201785518
LitVar	rs201785518
Map	rs201785518
PheGenI	rs201785518
Biobank	rs201785518
1000 genomes	rs201785518
hgdp	rs201785518
ensembl	rs201785518
geneview	rs201785518
scholar	rs201785518
google	rs201785518
pharmgkb	rs201785518
gwascentral	rs201785518
openSNP	rs201785518
23andMe	rs201785518
SNPshot	rs201785518
SNPdbe	rs201785518
MSV3d	rs201785518
GWAS Ctlg	rs201785518

Max Magnitude

0

ClinVar
Risk	rs201785518(A;A)
Alt	rs201785518(A;A)
Reference	Rs201785518(G;G)
Significance	Pathogenic
Disease	Microcephaly 16 Microcephaly
Variation	info
Gene	ANKLE2
CLNDBN	Microcephaly 16, primary, autosomal recessive Microcephaly
Reversed	0
HGVS	NC_000012.11:g.133306404G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202417.2, RCV000203262.1,