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rs797044537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
(I;I) 0 common genotype
Make rs797044537(-;-)
Make rs797044537(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235775005
GeneLYST
is asnp
is mentioned by
dbSNPrs797044537
dbSNP (classic)rs797044537
ClinGenrs797044537
ebirs797044537
HLIrs797044537
Exacrs797044537
Gnomadrs797044537
Varsomers797044537
LitVarrs797044537
Maprs797044537
PheGenIrs797044537
Biobankrs797044537
1000 genomesrs797044537
hgdprs797044537
ensemblrs797044537
geneviewrs797044537
scholarrs797044537
googlers797044537
pharmgkbrs797044537
gwascentralrs797044537
openSNPrs797044537
23andMers797044537
SNPshotrs797044537
SNPdbers797044537
MSV3drs797044537
GWAS Ctlgrs797044537
Max Magnitude0
ClinVar
Risk rs797044537(-;-)
Alt rs797044537(-;-)
Reference Rs797044537(AA;AA)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235938305_235938306delTT
CLNSRC
CLNACC RCV000192047.1,