rs1057516865

Orientation

minus

Stabilized

minus

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

Make rs1057516865(-;-)

Make rs1057516865(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

108899868

Gene

IKBKAP

is a	snp
is	mentioned by
dbSNP	rs1057516865
dbSNP (classic)	rs1057516865
ClinGen	rs1057516865
ebi	rs1057516865
HLI	rs1057516865
Exac	rs1057516865
Gnomad	rs1057516865
Varsome	rs1057516865
LitVar	rs1057516865
Map	rs1057516865
PheGenI	rs1057516865
Biobank	rs1057516865
1000 genomes	rs1057516865
hgdp	rs1057516865
ensembl	rs1057516865
geneview	rs1057516865
scholar	rs1057516865
google	rs1057516865
pharmgkb	rs1057516865
gwascentral	rs1057516865
openSNP	rs1057516865
23andMe	rs1057516865
SNPshot	rs1057516865
SNPdbe	rs1057516865
MSV3d	rs1057516865
GWAS Ctlg	rs1057516865

Max Magnitude

0

ClinVar
Risk	rs1057516865(-;-)
Alt	rs1057516865(-;-)
Reference	Rs1057516865(C;C)
Significance	Probable-Pathogenic
Disease	Familial dysautonomia
Variation	info
Gene	IKBKAP
CLNDBN	Familial dysautonomia
Reversed	1
HGVS	NC_000009.11:g.111662148delG
CLNSRC
CLNACC	RCV000411836.1,