Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 carrier for GRACILE syndrome allele
(G;G) 5 GRACILE syndrome
ReferenceGRCh38 38.1/141
Chromosome2
Position218661219
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs28937590
ebirs28937590
HLIrs28937590
Exacrs28937590
Varsomers28937590
Maprs28937590
PheGenIrs28937590
hapmaprs28937590
1000 genomesrs28937590
hgdprs28937590
ensemblrs28937590
gopubmedrs28937590
geneviewrs28937590
scholarrs28937590
googlers28937590
pharmgkbrs28937590
gwascentralrs28937590
openSNPrs28937590
23andMers28937590
23andMe allrs28937590
SNP Nexus

SNPshotrs28937590
SNPdbers28937590
MSV3drs28937590
GWAS Ctlgrs28937590
GMAF0.0
Max Magnitude5

rs28937590, also known as Ser78Gly or S78G, is a SNP in the BC1 (ubiquinol-cytochrome c reductase) synthesis-like BCS1L gene.

The rare rs28937590(G) allele which is (when present in two copies) causative for GRACILE syndrome is thought to be a founder mutation found primarily in those of Finnish ancestry.

23andMe reports on this SNP under the term i5012660.

OMIM603647
DescGRACILE SYNDROME
Variant0005
Relatedalso


ClinVar
Risk rs28937590(G;G)
Alt rs28937590(G;G)
Reference rs28937590(A;A)
Significance Pathogenic
Disease GRACILE syndrome
Variation info
Gene ZNF142 BCS1L
CLNDBN GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219525942A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006542.3,