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

rs1057518733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518733(C;C)
Make rs1057518733(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position63837439
GeneSMARCD2
is asnp
is mentioned by
dbSNPrs1057518733
dbSNP (old)rs1057518733
ClinGenrs1057518733
ebirs1057518733
HLIrs1057518733
Exacrs1057518733
Gnomadrs1057518733
Varsomers1057518733
LitVarrs1057518733
Maprs1057518733
PheGenIrs1057518733
Biobankrs1057518733
1000 genomesrs1057518733
hgdprs1057518733
ensemblrs1057518733
gopubmedrs1057518733
geneviewrs1057518733
scholarrs1057518733
googlers1057518733
pharmgkbrs1057518733
gwascentralrs1057518733
openSNPrs1057518733
23andMers1057518733
23andMe allrs1057518733
SNPshotrs1057518733
SNPdbers1057518733
MSV3drs1057518733
GWAS Ctlgrs1057518733
Max Magnitude0
ClinVar
Risk rs1057518733(C;C)
Alt rs1057518733(C;C)
Reference Rs1057518733(T;T)
Significance Pathogenic
Disease Autosomal recessive severe congenital neutropenia Specific granule deficiency Specific granule deficiency 2
Variation info
Gene SMARCD2
CLNDBN Autosomal recessive severe congenital neutropenia Specific granule deficiency Specific granule deficiency 2
Reversed 1
HGVS NC_000017.10:g.61914799A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415497.1, RCV000490561.1,