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rs104894668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894668(G;G)
Make rs104894668(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18594338
GeneCRLF1
is asnp
is mentioned by
dbSNPrs104894668
dbSNP (classic)rs104894668
ClinGenrs104894668
ebirs104894668
HLIrs104894668
Exacrs104894668
Gnomadrs104894668
Varsomers104894668
LitVarrs104894668
Maprs104894668
PheGenIrs104894668
Biobankrs104894668
1000 genomesrs104894668
hgdprs104894668
ensemblrs104894668
geneviewrs104894668
scholarrs104894668
googlers104894668
pharmgkbrs104894668
gwascentralrs104894668
openSNPrs104894668
23andMers104894668
SNPshotrs104894668
SNPdbers104894668
MSV3drs104894668
GWAS Ctlgrs104894668
Max Magnitude0
OMIM604237
Desc
Variant0002
Relatedalso
OMIM272430
Desc
Variant
Relatedalso
ClinVar
Risk rs104894668(G;G)
Alt rs104894668(G;G)
Reference Rs104894668(T;T)
Significance Pathogenic
Disease Cold-induced sweating syndrome 1
Variation info
Gene CRLF1
CLNDBN Cold-induced sweating syndrome 1
Reversed 1
HGVS NC_000019.9:g.18705148A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006060.3, RCV000020613.1,