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rs869312925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312925(G;T)
Make rs869312925(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position75647618
GeneKARS, TERF2IP
is asnp
is mentioned by
dbSNPrs869312925
dbSNP (classic)rs869312925
ClinGenrs869312925
ebirs869312925
HLIrs869312925
Exacrs869312925
Gnomadrs869312925
Varsomers869312925
LitVarrs869312925
Maprs869312925
PheGenIrs869312925
Biobankrs869312925
1000 genomesrs869312925
hgdprs869312925
ensemblrs869312925
geneviewrs869312925
scholarrs869312925
googlers869312925
pharmgkbrs869312925
gwascentralrs869312925
openSNPrs869312925
23andMers869312925
SNPshotrs869312925
SNPdbers869312925
MSV3drs869312925
GWAS Ctlgrs869312925
Max Magnitude0
ClinVar
Risk rs869312925(T;T)
Alt rs869312925(T;T)
Reference Rs869312925(G;G)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene TERF2IP KARS
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000016.9:g.75681516C>A
CLNSRC
CLNACC RCV000210604.1,