rs754240018

Orientation

plus

Stabilized

plus

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

Make rs754240018(G;G)

Make rs754240018(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

36819680

Gene

RFXAP

is a	snp
is	mentioned by
dbSNP	rs754240018
dbSNP (classic)	rs754240018
ClinGen	rs754240018
ebi	rs754240018
HLI	rs754240018
Exac	rs754240018
Gnomad	rs754240018
Varsome	rs754240018
LitVar	rs754240018
Map	rs754240018
PheGenI	rs754240018
Biobank	rs754240018
1000 genomes	rs754240018
hgdp	rs754240018
ensembl	rs754240018
geneview	rs754240018
scholar	rs754240018
google	rs754240018
pharmgkb	rs754240018
gwascentral	rs754240018
openSNP	rs754240018
23andMe	rs754240018
SNPshot	rs754240018
SNPdbe	rs754240018
MSV3d	rs754240018
GWAS Ctlg	rs754240018

Max Magnitude

0

ClinVar
Risk	rs754240018(A;A) rs754240018(G;G)
Alt	rs754240018(A;A) rs754240018(G;G)
Reference	Rs754240018(T;T)
Significance	Pathogenic
Disease	SCID due to absent class II HLA antigens
Variation	info
Gene	RFXAP
CLNDBN	SCID due to absent class II HLA antigens
Reversed	0
HGVS	NC_000013.10:g.37393817T>A
CLNSRC
CLNACC	RCV000190356.1,