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rs786205702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205702(A;C)
Make rs786205702(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position63695093
GeneRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
is asnp
is mentioned by
dbSNPrs786205702
dbSNP (classic)rs786205702
ClinGenrs786205702
ebirs786205702
HLIrs786205702
Exacrs786205702
Gnomadrs786205702
Varsomers786205702
LitVarrs786205702
Maprs786205702
PheGenIrs786205702
Biobankrs786205702
1000 genomesrs786205702
hgdprs786205702
ensemblrs786205702
geneviewrs786205702
scholarrs786205702
googlers786205702
pharmgkbrs786205702
gwascentralrs786205702
openSNPrs786205702
23andMers786205702
SNPshotrs786205702
SNPdbers786205702
MSV3drs786205702
GWAS Ctlgrs786205702
Max Magnitude0
ClinVar
Risk rs786205702(C;C)
Alt rs786205702(C;C)
Reference Rs786205702(A;A)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure
Variation info
Gene RTEL1-TNFRSF6B RTEL1 TNFRSF6B
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Reversed 0
HGVS NC_000020.10:g.62326446A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170596.3,