rs587777411

Orientation

plus

Stabilized

plus

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

Make rs587777411(C;G)

Make rs587777411(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

105160144

Gene	KIAA1033, WASHC4

is a	snp
is	mentioned by
dbSNP	rs587777411
dbSNP (classic)	rs587777411
ClinGen	rs587777411
ebi	rs587777411
HLI	rs587777411
Exac	rs587777411
Gnomad	rs587777411
Varsome	rs587777411
LitVar	rs587777411
Map	rs587777411
PheGenI	rs587777411
Biobank	rs587777411
1000 genomes	rs587777411
hgdp	rs587777411
ensembl	rs587777411
geneview	rs587777411
scholar	rs587777411
google	rs587777411
pharmgkb	rs587777411
gwascentral	rs587777411
openSNP	rs587777411
23andMe	rs587777411
SNPshot	rs587777411
SNPdbe	rs587777411
MSV3d	rs587777411
GWAS Ctlg	rs587777411

Max Magnitude

0

ClinVar
Risk	rs587777411(G;G)
Alt	rs587777411(G;G)
Reference	Rs587777411(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	KIAA1033
CLNDBN	Mental retardation, autosomal recessive 43
Reversed	0
HGVS	NC_000012.11:g.105553922C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119809.3,