Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
(GAAA;GAAA) 0 common in clinvar
Make rs312262830(-;-)
Make rs312262830(-;GAAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13739020
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262830
ebirs312262830
HLIrs312262830
Exacrs312262830
Varsomers312262830
Maprs312262830
PheGenIrs312262830
hapmaprs312262830
1000 genomesrs312262830
hgdprs312262830
ensemblrs312262830
gopubmedrs312262830
geneviewrs312262830
scholarrs312262830
googlers312262830
pharmgkbrs312262830
gwascentralrs312262830
openSNPrs312262830
23andMers312262830
23andMe allrs312262830
SNP Nexus

SNPshotrs312262830
SNPdbers312262830
MSV3drs312262830
GWAS Ctlgrs312262830
Max Magnitude0
ClinVar
Risk rs312262830(;)
Alt rs312262830(;)
Reference rs312262830(AAAG;AAAG)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13757139_13757142delGAAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034016.2,