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rs727502868

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502868(-;-)
Make rs727502868(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position231352614
GeneSPRTN
is asnp
is mentioned by
dbSNPrs727502868
ebirs727502868
HLIrs727502868
Exacrs727502868
Varsomers727502868
Maprs727502868
PheGenIrs727502868
hapmaprs727502868
1000 genomesrs727502868
hgdprs727502868
ensemblrs727502868
gopubmedrs727502868
geneviewrs727502868
scholarrs727502868
googlers727502868
pharmgkbrs727502868
gwascentralrs727502868
openSNPrs727502868
23andMers727502868
23andMe allrs727502868
SNP Nexus

SNPshotrs727502868
SNPdbers727502868
MSV3drs727502868
GWAS Ctlgrs727502868
Max Magnitude0
ClinVar
Risk rs727502868(;)
Alt rs727502868(;)
Reference rs727502868(A;A)
Significance Pathogenic
Disease Ruijs-aalfs syndrome
Variation info
Gene SPRTN
CLNDBN Ruijs-aalfs syndrome
Reversed 0
HGVS NC_000001.10:g.231488360delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000150048.3,