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rs149660944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149660944(C;T)
Make rs149660944(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position33772017
GeneCHST8
is asnp
is mentioned by
dbSNPrs149660944
dbSNP (classic)rs149660944
ClinGenrs149660944
ebirs149660944
HLIrs149660944
Exacrs149660944
Gnomadrs149660944
Varsomers149660944
LitVarrs149660944
Maprs149660944
PheGenIrs149660944
Biobankrs149660944
1000 genomesrs149660944
hgdprs149660944
ensemblrs149660944
geneviewrs149660944
scholarrs149660944
googlers149660944
pharmgkbrs149660944
gwascentralrs149660944
openSNPrs149660944
23andMers149660944
SNPshotrs149660944
SNPdbers149660944
MSV3drs149660944
GWAS Ctlgrs149660944
Max Magnitude0
ClinVar
Risk rs149660944(A;A) rs149660944(T;T)
Alt rs149660944(A;A) rs149660944(T;T)
Reference Rs149660944(C;C)
Significance Pathogenic
Disease Peeling skin syndrome 3
Variation info
Gene CHST8
CLNDBN Peeling skin syndrome 3
Reversed 0
HGVS NC_000019.9:g.34262922C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162277.3,