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rs754368658

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754368658(A;A)
Make rs754368658(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position14584383
GenePARN
is asnp
is mentioned by
dbSNPrs754368658
ebirs754368658
HLIrs754368658
Exacrs754368658
Varsomers754368658
Maprs754368658
PheGenIrs754368658
hapmaprs754368658
1000 genomesrs754368658
hgdprs754368658
ensemblrs754368658
gopubmedrs754368658
geneviewrs754368658
scholarrs754368658
googlers754368658
pharmgkbrs754368658
gwascentralrs754368658
openSNPrs754368658
23andMers754368658
23andMe allrs754368658
SNP Nexus

SNPshotrs754368658
SNPdbers754368658
MSV3drs754368658
GWAS Ctlgrs754368658
Max Magnitude0
ClinVar
Risk rs754368658(A;A)
Alt rs754368658(A;A)
Reference rs754368658(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene PARN
CLNDBN Dyskeratosis congenita, autosomal recessive 6
Reversed 0
HGVS NC_000016.9:g.14678240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203540.1,