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rs1057518731

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518731(A;A)
Make rs1057518731(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position63833908
GeneSMARCD2
is asnp
is mentioned by
dbSNPrs1057518731
dbSNP (old)rs1057518731
ClinGenrs1057518731
ebirs1057518731
HLIrs1057518731
Exacrs1057518731
Gnomadrs1057518731
Varsomers1057518731
Maprs1057518731
PheGenIrs1057518731
Biobankrs1057518731
1000 genomesrs1057518731
hgdprs1057518731
ensemblrs1057518731
gopubmedrs1057518731
geneviewrs1057518731
scholarrs1057518731
googlers1057518731
pharmgkbrs1057518731
gwascentralrs1057518731
openSNPrs1057518731
23andMers1057518731
23andMe allrs1057518731
SNPshotrs1057518731
SNPdbers1057518731
MSV3drs1057518731
GWAS Ctlgrs1057518731
Max Magnitude0
ClinVar
Risk rs1057518731(A;A)
Alt rs1057518731(A;A)
Reference Rs1057518731(G;G)
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.61911268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415510.1, RCV000490556.1,