rs1057517169

Orientation

minus

Stabilized

minus

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

Make rs1057517169(A;A)

Make rs1057517169(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

108899821

Gene

IKBKAP

is a	snp
is	mentioned by
dbSNP	rs1057517169
dbSNP (classic)	rs1057517169
ClinGen	rs1057517169
ebi	rs1057517169
HLI	rs1057517169
Exac	rs1057517169
Gnomad	rs1057517169
Varsome	rs1057517169
LitVar	rs1057517169
Map	rs1057517169
PheGenI	rs1057517169
Biobank	rs1057517169
1000 genomes	rs1057517169
hgdp	rs1057517169
ensembl	rs1057517169
geneview	rs1057517169
scholar	rs1057517169
google	rs1057517169
pharmgkb	rs1057517169
gwascentral	rs1057517169
openSNP	rs1057517169
23andMe	rs1057517169
SNPshot	rs1057517169
SNPdbe	rs1057517169
MSV3d	rs1057517169
GWAS Ctlg	rs1057517169

Max Magnitude

0

ClinVar
Risk	rs1057517169(A;A)
Alt	rs1057517169(A;A)
Reference	Rs1057517169(G;G)
Significance	Probable-Pathogenic
Disease	Familial dysautonomia
Variation	info
Gene	IKBKAP
CLNDBN	Familial dysautonomia
Reversed	1
HGVS	NC_000009.11:g.111662101C>T
CLNSRC
CLNACC	RCV000409095.1,