rs749052963

Orientation

plus

Stabilized

plus

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

Make rs749052963(G;T)

Make rs749052963(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

108893986

Gene

IKBKAP

is a	snp
is	mentioned by
dbSNP	rs749052963
dbSNP (classic)	rs749052963
ClinGen	rs749052963
ebi	rs749052963
HLI	rs749052963
Exac	rs749052963
Gnomad	rs749052963
Varsome	rs749052963
LitVar	rs749052963
Map	rs749052963
PheGenI	rs749052963
Biobank	rs749052963
1000 genomes	rs749052963
hgdp	rs749052963
ensembl	rs749052963
geneview	rs749052963
scholar	rs749052963
google	rs749052963
pharmgkb	rs749052963
gwascentral	rs749052963
openSNP	rs749052963
23andMe	rs749052963
SNPshot	rs749052963
SNPdbe	rs749052963
MSV3d	rs749052963
GWAS Ctlg	rs749052963

Max Magnitude

0

ClinVar
Risk	rs749052963(T;T)
Alt	rs749052963(T;T)
Reference	Rs749052963(G;G)
Significance	Probable-Pathogenic
Disease	Familial dysautonomia
Variation	info
Gene	IKBKAP
CLNDBN	Familial dysautonomia
Reversed	0
HGVS	NC_000009.11:g.111656266G>T
CLNSRC
CLNACC	RCV000410939.1,