Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044534(C;C)
Make rs797044534(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235810046
GeneLYST
is asnp
is mentioned by
dbSNPrs797044534
dbSNP (classic)rs797044534
ClinGenrs797044534
ebirs797044534
HLIrs797044534
Exacrs797044534
Gnomadrs797044534
Varsomers797044534
LitVarrs797044534
Maprs797044534
PheGenIrs797044534
Biobankrs797044534
1000 genomesrs797044534
hgdprs797044534
ensemblrs797044534
geneviewrs797044534
scholarrs797044534
googlers797044534
pharmgkbrs797044534
gwascentralrs797044534
openSNPrs797044534
23andMers797044534
SNPshotrs797044534
SNPdbers797044534
MSV3drs797044534
GWAS Ctlgrs797044534
Max Magnitude0
ClinVar
Risk rs797044534(C;C) rs797044534(G;G)
Alt rs797044534(C;C) rs797044534(G;G)
Reference Rs797044534(T;T)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235973346A>G
CLNSRC
CLNACC RCV000192043.1,