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rs137853930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853930(C;T)
Make rs137853930(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18598886
GeneCRLF1
is asnp
is mentioned by
dbSNPrs137853930
dbSNP (classic)rs137853930
ClinGenrs137853930
ebirs137853930
HLIrs137853930
Exacrs137853930
Gnomadrs137853930
Varsomers137853930
LitVarrs137853930
Maprs137853930
PheGenIrs137853930
Biobankrs137853930
1000 genomesrs137853930
hgdprs137853930
ensemblrs137853930
geneviewrs137853930
scholarrs137853930
googlers137853930
pharmgkbrs137853930
gwascentralrs137853930
openSNPrs137853930
23andMers137853930
SNPshotrs137853930
SNPdbers137853930
MSV3drs137853930
GWAS Ctlgrs137853930
Max Magnitude0
ClinVar
Risk rs137853930(T;T)
Alt rs137853930(T;T)
Reference Rs137853930(C;C)
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.18709696G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000020618.1,


OMIM272430
Desc
Variant
Relatedalso