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rs754240018

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs754240018(G;G)
Make rs754240018(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position36819680
GeneRFXAP, SMAD9
is asnp
is mentioned by
dbSNPrs754240018
ebirs754240018
HLIrs754240018
Exacrs754240018
Varsomers754240018
Maprs754240018
PheGenIrs754240018
hapmaprs754240018
1000 genomesrs754240018
hgdprs754240018
ensemblrs754240018
gopubmedrs754240018
geneviewrs754240018
scholarrs754240018
googlers754240018
pharmgkbrs754240018
gwascentralrs754240018
openSNPrs754240018
23andMers754240018
23andMe allrs754240018
SNP Nexus

SNPshotrs754240018
SNPdbers754240018
MSV3drs754240018
GWAS Ctlgrs754240018
Max Magnitude0
ClinVar
Risk rs754240018(G;G)
Alt 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,