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rs786205701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205701(C;T)
Make rs786205701(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position63689801
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs786205701
dbSNP (classic)rs786205701
ClinGenrs786205701
ebirs786205701
HLIrs786205701
Exacrs786205701
Gnomadrs786205701
Varsomers786205701
LitVarrs786205701
Maprs786205701
PheGenIrs786205701
Biobankrs786205701
1000 genomesrs786205701
hgdprs786205701
ensemblrs786205701
geneviewrs786205701
scholarrs786205701
googlers786205701
pharmgkbrs786205701
gwascentralrs786205701
openSNPrs786205701
23andMers786205701
SNPshotrs786205701
SNPdbers786205701
MSV3drs786205701
GWAS Ctlgrs786205701
Max Magnitude0
ClinVar
Risk rs786205701(T;T)
Alt rs786205701(T;T)
Reference Rs786205701(C;C)
Significance Pathogenic
Disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
Reversed 0
HGVS NC_000020.10:g.62321154C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170595.2,