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rs28942099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28942099(A;A)
Make rs28942099(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position66995394
GeneSBDS, TYW1
is asnp
is mentioned by
dbSNPrs28942099
ebirs28942099
HLIrs28942099
Exacrs28942099
Varsomers28942099
Maprs28942099
PheGenIrs28942099
hapmaprs28942099
1000 genomesrs28942099
hgdprs28942099
ensemblrs28942099
gopubmedrs28942099
geneviewrs28942099
scholarrs28942099
googlers28942099
pharmgkbrs28942099
gwascentralrs28942099
openSNPrs28942099
23andMers28942099
23andMe allrs28942099
SNP Nexus

SNPshotrs28942099
SNPdbers28942099
MSV3drs28942099
GWAS Ctlgrs28942099
Max Magnitude0
OMIM607444
DescSHWACHMAN-DIAMOND SYNDROME
Variant0003
Relatedalso


ClinVar
Risk rs28942099(A;A)
Alt rs28942099(A;A)
Reference rs28942099(C;C)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS TYW1
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66460381G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003349.3,