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rs387906985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906985(C;G)
Make rs387906985(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position101178181
GeneCHSY1
is asnp
is mentioned by
dbSNPrs387906985
ebirs387906985
HLIrs387906985
Exacrs387906985
Varsomers387906985
Maprs387906985
PheGenIrs387906985
hapmaprs387906985
1000 genomesrs387906985
hgdprs387906985
ensemblrs387906985
gopubmedrs387906985
geneviewrs387906985
scholarrs387906985
googlers387906985
pharmgkbrs387906985
gwascentralrs387906985
openSNPrs387906985
23andMers387906985
23andMe allrs387906985
SNP Nexus

SNPshotrs387906985
SNPdbers387906985
MSV3drs387906985
GWAS Ctlgrs387906985
Max Magnitude0
ClinVar
Risk rs387906985(G;G)
Alt rs387906985(G;G)
Reference rs387906985(C;C)
Significance Pathogenic
Disease Temtamy preaxial brachydactyly syndrome
Variation info
Gene CHSY1
CLNDBN Temtamy preaxial brachydactyly syndrome
Reversed 1
HGVS NC_000015.9:g.101718386G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023692.3,