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rs63751447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TAATTTC) 6 Lynch syndrome, pathogenic mutation
(CTAATTT;CTAATTT) 0 common in clinvar
(I;I) 0 common genotype
(TAATTTC;TAATTTC) 0 common in clinvar


Make rs63751447(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480739
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751447
dbSNP (classic)rs63751447
ClinGenrs63751447
ebirs63751447
HLIrs63751447
Exacrs63751447
Gnomadrs63751447
Varsomers63751447
LitVarrs63751447
Maprs63751447
PheGenIrs63751447
Biobankrs63751447
1000 genomesrs63751447
hgdprs63751447
ensemblrs63751447
geneviewrs63751447
scholarrs63751447
googlers63751447
pharmgkbrs63751447
gwascentralrs63751447
openSNPrs63751447
23andMers63751447
SNPshotrs63751447
SNPdbers63751447
MSV3drs63751447
GWAS Ctlgrs63751447
Max Magnitude6
ClinVar
Risk rs63751447(-;-) Rs63751447(CTAATTT;CTAATTT)
Alt rs63751447(-;-) Rs63751447(CTAATTT;CTAATTT)
Reference Rs63751447(TAATTTC;TAATTTC)
Significance Other
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47707878_47707884delTAATTTC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076489.2, RCV000163822.3, RCV000202117.1,