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rs118203918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203918(A;A)
Make rs118203918(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position53016099
GeneICK
is asnp
is mentioned by
dbSNPrs118203918
ebirs118203918
HLIrs118203918
Exacrs118203918
Varsomers118203918
Maprs118203918
PheGenIrs118203918
hapmaprs118203918
1000 genomesrs118203918
hgdprs118203918
ensemblrs118203918
gopubmedrs118203918
geneviewrs118203918
scholarrs118203918
googlers118203918
pharmgkbrs118203918
gwascentralrs118203918
openSNPrs118203918
23andMers118203918
23andMe allrs118203918
SNP Nexus

SNPshotrs118203918
SNPdbers118203918
MSV3drs118203918
GWAS Ctlgrs118203918
Max Magnitude0
OMIM612325
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203918(A;A)
Alt rs118203918(A;A)
Reference rs118203918(G;G)
Significance Pathogenic
Disease Endocrine-cerebroosteodysplasia
Variation info
Gene ICK
CLNDBN Endocrine-cerebroosteodysplasia
Reversed 1
HGVS NC_000006.11:g.52880897C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000672.2,