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rs759131762

From SNPedia

Orientationplus
Geno Mag Summary
(TACT;TACT) 0 common in clinvar
Make rs759131762(-;-)
Make rs759131762(-;TACT)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position14608274
GenePARN
is asnp
is mentioned by
dbSNPrs759131762
ebirs759131762
HLIrs759131762
Exacrs759131762
Varsomers759131762
Maprs759131762
PheGenIrs759131762
hapmaprs759131762
1000 genomesrs759131762
hgdprs759131762
ensemblrs759131762
gopubmedrs759131762
geneviewrs759131762
scholarrs759131762
googlers759131762
pharmgkbrs759131762
gwascentralrs759131762
openSNPrs759131762
23andMers759131762
23andMe allrs759131762
SNP Nexus

SNPshotrs759131762
SNPdbers759131762
MSV3drs759131762
GWAS Ctlgrs759131762
Max Magnitude0
ClinVar
Risk rs759131762(;)
Alt rs759131762(;)
Reference rs759131762(TACT;TACT)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene PARN
CLNDBN Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6
Reversed 0
HGVS NC_000016.9:g.14702131_14702134delTACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000162315.1, RCV000170487.4,