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rs201779890

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 8 thrombocytopenia-absent radius syndrome
(C;G) 3 Carrier of a mutation for thrombocytopenia-absent radius syndrome
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position145927328
GeneLOC105371260, RBM8A
is asnp
is mentioned by
dbSNPrs201779890
ClinGenrs201779890
ebirs201779890
HLIrs201779890
Exacrs201779890
Varsomers201779890
Maprs201779890
PheGenIrs201779890
hapmaprs201779890
1000 genomesrs201779890
hgdprs201779890
ensemblrs201779890
gopubmedrs201779890
geneviewrs201779890
scholarrs201779890
googlers201779890
pharmgkbrs201779890
gwascentralrs201779890
openSNPrs201779890
23andMers201779890
23andMe allrs201779890
SNP Nexus

SNPshotrs201779890
SNPdbers201779890
MSV3drs201779890
GWAS Ctlgrs201779890
Max Magnitude8

rs201779890, also known as c.67+32G>C, represents a relatively rare (~1 in 200 alleles) mutation in the RBM8A gene on chromosome 1.

The minor allele is reported in ClinVar (as well as BabySeq) as a recessively inherited pathogenic mutation leading to thrombocytopenia-absent radius syndrome (TAR). Based on OMIM, most cases of TAR are caused by carrying a rare null (large deletion allele) on one chromosome 1 and either rs201779890(C) or rs139428292(A) on the other.


ClinVar
Risk Rs201779890(C;C)
Alt Rs201779890(C;C)
Reference Rs201779890(G;G)
Significance Other
Disease Radial aplasia-thrombocytopenia syndrome not provided
Variation info
Gene RBM8A
CLNDBN Radial aplasia-thrombocytopenia syndrome not provided
Reversed 0
HGVS NC_000001.10:g.145507765G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023419.5, RCV000172898.2,