rs3204145

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	0.1	Likely to be a benign variant
(T;T)	0	normal

Make rs3204145(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

108889340

Gene

IKBKAP

is a	snp
is	mentioned by
dbSNP	rs3204145
dbSNP (classic)	rs3204145
ClinGen	rs3204145
ebi	rs3204145
HLI	rs3204145
Exac	rs3204145
Gnomad	rs3204145
Varsome	rs3204145
LitVar	rs3204145
Map	rs3204145
PheGenI	rs3204145
Biobank	rs3204145
1000 genomes	rs3204145
hgdp	rs3204145
ensembl	rs3204145
geneview	rs3204145
scholar	rs3204145
google	rs3204145
pharmgkb	rs3204145
gwascentral	rs3204145
openSNP	rs3204145
23andMe	rs3204145
SNPshot	rs3204145
SNPdbe	rs3204145
MSV3d	rs3204145
GWAS Ctlg	rs3204145

GMAF

0.2236

Max Magnitude

0.1

?	(A;A) (A;T) (T;T)	28

ClinVar
Risk	rs3204145(A;A) rs3204145(C;C)
Alt	rs3204145(A;A) rs3204145(C;C)
Reference	Rs3204145(T;T)
Significance	Probable-non-pathogenic
Disease	not specified Familial dysautonomia
Variation	info
Gene	IKBKAP
CLNDBN	not specified Familial dysautonomia
Reversed	1
HGVS	NC_000009.11:g.111651620A>T
CLNSRC
CLNACC	RCV000250637.1, RCV000280679.1,