rs281865468

Orientation

minus

Stabilized

minus

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

Make rs281865468(C;T)

Make rs281865468(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

46171228

Gene

KANSL1

is a	snp
is	mentioned by
dbSNP	rs281865468
dbSNP (classic)	rs281865468
ClinGen	rs281865468
ebi	rs281865468
HLI	rs281865468
Exac	rs281865468
Gnomad	rs281865468
Varsome	rs281865468
LitVar	rs281865468
Map	rs281865468
PheGenI	rs281865468
Biobank	rs281865468
1000 genomes	rs281865468
hgdp	rs281865468
ensembl	rs281865468
geneview	rs281865468
scholar	rs281865468
google	rs281865468
pharmgkb	rs281865468
gwascentral	rs281865468
openSNP	rs281865468
23andMe	rs281865468
SNPshot	rs281865468
SNPdbe	rs281865468
MSV3d	rs281865468
GWAS Ctlg	rs281865468

Max Magnitude

0

ClinVar
Risk	rs281865468(T;T)
Alt	rs281865468(T;T)
Reference	Rs281865468(C;C)
Significance	Pathogenic
Disease	Koolen-de Vries syndrome
Variation	info
Gene	KANSL1
CLNDBN	Koolen-de Vries syndrome
Reversed	1
HGVS	NC_000017.10:g.44248594G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024373.2,