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rs137853132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853132(A;A)
Make rs137853132(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128345267
GeneSLC27A4
is asnp
is mentioned by
dbSNPrs137853132
dbSNP (classic)rs137853132
ClinGenrs137853132
ebirs137853132
HLIrs137853132
Exacrs137853132
Gnomadrs137853132
Varsomers137853132
LitVarrs137853132
Maprs137853132
PheGenIrs137853132
Biobankrs137853132
1000 genomesrs137853132
hgdprs137853132
ensemblrs137853132
geneviewrs137853132
scholarrs137853132
googlers137853132
pharmgkbrs137853132
gwascentralrs137853132
openSNPrs137853132
23andMers137853132
SNPshotrs137853132
SNPdbers137853132
MSV3drs137853132
GWAS Ctlgrs137853132
Max Magnitude0
OMIM604194
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853132(A;A)
Alt rs137853132(A;A)
Reference Rs137853132(G;G)
Significance Pathogenic
Disease Ichthyosis prematurity syndrome
Variation info
Gene SLC27A4
CLNDBN Ichthyosis prematurity syndrome
Reversed 0
HGVS NC_000009.11:g.131107546G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006100.2,