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rs780705654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs780705654(A;A)
Make rs780705654(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position23167916
GeneKLHL7
is asnp
is mentioned by
dbSNPrs780705654
dbSNP (classic)rs780705654
ClinGenrs780705654
ebirs780705654
HLIrs780705654
Exacrs780705654
Gnomadrs780705654
Varsomers780705654
LitVarrs780705654
Maprs780705654
PheGenIrs780705654
Biobankrs780705654
1000 genomesrs780705654
hgdprs780705654
ensemblrs780705654
geneviewrs780705654
scholarrs780705654
googlers780705654
pharmgkbrs780705654
gwascentralrs780705654
openSNPrs780705654
23andMers780705654
SNPshotrs780705654
SNPdbers780705654
MSV3drs780705654
GWAS Ctlgrs780705654
Max Magnitude0
ClinVar
Risk rs780705654(A;A) rs780705654(T;T)
Alt rs780705654(A;A) rs780705654(T;T)
Reference Rs780705654(C;C)
Significance Pathogenic
Disease Cold-induced sweating syndrome 3 Cold-induced sweating syndrome 1
Variation info
Gene KLHL7
CLNDBN Cold-induced sweating syndrome 3 Cold-induced sweating syndrome 1
Reversed 0
HGVS NC_000007.13:g.23207535C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239522.1, RCV000491153.1,