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rs797044539

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044539(A;T)
Make rs797044539(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235741499
GeneLYST
is asnp
is mentioned by
dbSNPrs797044539
ebirs797044539
HLIrs797044539
Exacrs797044539
Varsomers797044539
Maprs797044539
PheGenIrs797044539
hapmaprs797044539
1000 genomesrs797044539
hgdprs797044539
ensemblrs797044539
gopubmedrs797044539
geneviewrs797044539
scholarrs797044539
googlers797044539
pharmgkbrs797044539
gwascentralrs797044539
openSNPrs797044539
23andMers797044539
23andMe allrs797044539
SNP Nexus

SNPshotrs797044539
SNPdbers797044539
MSV3drs797044539
GWAS Ctlgrs797044539
Max Magnitude0
ClinVar
Risk rs797044539(T;T)
Alt rs797044539(T;T)
Reference rs797044539(A;A)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235904799T>A
CLNSRC
CLNACC RCV000192049.1,