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rs104894203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894203(G;T)
Make rs104894203(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position67365224
GeneCLCF1, LOC100130987
is asnp
is mentioned by
dbSNPrs104894203
dbSNP (classic)rs104894203
ClinGenrs104894203
ebirs104894203
HLIrs104894203
Exacrs104894203
Gnomadrs104894203
Varsomers104894203
LitVarrs104894203
Maprs104894203
PheGenIrs104894203
Biobankrs104894203
1000 genomesrs104894203
hgdprs104894203
ensemblrs104894203
geneviewrs104894203
scholarrs104894203
googlers104894203
pharmgkbrs104894203
gwascentralrs104894203
openSNPrs104894203
23andMers104894203
SNPshotrs104894203
SNPdbers104894203
MSV3drs104894203
GWAS Ctlgrs104894203
Max Magnitude0
OMIM607672
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894203(A;A) rs104894203(T;T)
Alt rs104894203(A;A) rs104894203(T;T)
Reference Rs104894203(G;G)
Significance Pathogenic
Disease Cold-induced sweating syndrome 2
Variation info
Gene CLCF1 LOC100130987
CLNDBN Cold-induced sweating syndrome 2
Reversed 1
HGVS NC_000011.9:g.67132695C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003065.3,