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rs55687265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3 risk factor for systemic sclerosis
(C;G) 2.2 risk factor for systemic sclerosis
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position49934162
GeneATP8B4
is asnp
is mentioned by
dbSNPrs55687265
ebirs55687265
HLIrs55687265
Exacrs55687265
Varsomers55687265
Maprs55687265
PheGenIrs55687265
hapmaprs55687265
1000 genomesrs55687265
hgdprs55687265
ensemblrs55687265
gopubmedrs55687265
geneviewrs55687265
scholarrs55687265
googlers55687265
pharmgkbrs55687265
gwascentralrs55687265
openSNPrs55687265
23andMers55687265
23andMe allrs55687265
SNP Nexus

SNPshotrs55687265
SNPdbers55687265
MSV3drs55687265
GWAS Ctlgrs55687265
Max Magnitude3

rs55687265, also known as c.1308C>G, p.Phe43Leu and F436L, is a rare variant in the ATP8B4 gene on chromosome 15.

Exome sequencing followed by a replication cohort study and then a meta-analysis determined that the rs55687265(C) allele, as oriented in dbSNP, is associated with higher risk for systemic sclerosis (SSc; meta-analysis odds ratio 2.5, p = 1.92 x 10e-7).[PMID 26473621]