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rs387906984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906984(C;T)
Make rs387906984(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position101251252
GeneCHSY1
is asnp
is mentioned by
dbSNPrs387906984
ebirs387906984
HLIrs387906984
Exacrs387906984
Varsomers387906984
Maprs387906984
PheGenIrs387906984
hapmaprs387906984
1000 genomesrs387906984
hgdprs387906984
ensemblrs387906984
gopubmedrs387906984
geneviewrs387906984
scholarrs387906984
googlers387906984
pharmgkbrs387906984
gwascentralrs387906984
openSNPrs387906984
23andMers387906984
23andMe allrs387906984
SNP Nexus

SNPshotrs387906984
SNPdbers387906984
MSV3drs387906984
GWAS Ctlgrs387906984
Max Magnitude0
ClinVar
Risk rs387906984(T;T)
Alt rs387906984(T;T)
Reference rs387906984(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.101791457G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023690.2,