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rs137853135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853135(A;A)
Make rs137853135(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position128355770
GeneSLC27A4
is asnp
is mentioned by
dbSNPrs137853135
dbSNP (classic)rs137853135
ClinGenrs137853135
ebirs137853135
HLIrs137853135
Exacrs137853135
Gnomadrs137853135
Varsomers137853135
LitVarrs137853135
Maprs137853135
PheGenIrs137853135
Biobankrs137853135
1000 genomesrs137853135
hgdprs137853135
ensemblrs137853135
geneviewrs137853135
scholarrs137853135
googlers137853135
pharmgkbrs137853135
gwascentralrs137853135
openSNPrs137853135
23andMers137853135
SNPshotrs137853135
SNPdbers137853135
MSV3drs137853135
GWAS Ctlgrs137853135
Max Magnitude0
OMIM604194
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853135(A;A)
Alt rs137853135(A;A)
Reference Rs137853135(G;G)
Significance Pathogenic
Disease Ichthyosis prematurity syndrome
Variation info
Gene SLC27A4
CLNDBN Ichthyosis prematurity syndrome
Reversed 0
HGVS NC_000009.11:g.131118049G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006104.2,