rs754348901

Orientation

plus

Stabilized

plus

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

Make rs754348901(A;G)

Make rs754348901(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

108893941

Gene

IKBKAP

is a	snp
is	mentioned by
dbSNP	rs754348901
dbSNP (classic)	rs754348901
ClinGen	rs754348901
ebi	rs754348901
HLI	rs754348901
Exac	rs754348901
Gnomad	rs754348901
Varsome	rs754348901
LitVar	rs754348901
Map	rs754348901
PheGenI	rs754348901
Biobank	rs754348901
1000 genomes	rs754348901
hgdp	rs754348901
ensembl	rs754348901
geneview	rs754348901
scholar	rs754348901
google	rs754348901
pharmgkb	rs754348901
gwascentral	rs754348901
openSNP	rs754348901
23andMe	rs754348901
SNPshot	rs754348901
SNPdbe	rs754348901
MSV3d	rs754348901
GWAS Ctlg	rs754348901

Max Magnitude

0

ClinVar
Risk	rs754348901(G;G)
Alt	rs754348901(G;G)
Reference	Rs754348901(A;A)
Significance	Probable-Pathogenic
Disease	Familial dysautonomia
Variation	info
Gene	IKBKAP
CLNDBN	Familial dysautonomia
Reversed	0
HGVS	NC_000009.11:g.111656221A>G
CLNSRC
CLNACC	RCV000409912.1,