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rs312262890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262890(-;-)
Make rs312262890(-;AAGA)
Make rs312262890(AAGA;AAGA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13760586
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262890
ebirs312262890
HLIrs312262890
Exacrs312262890
Varsomers312262890
Maprs312262890
PheGenIrs312262890
hapmaprs312262890
1000 genomesrs312262890
hgdprs312262890
ensemblrs312262890
gopubmedrs312262890
geneviewrs312262890
scholarrs312262890
googlers312262890
pharmgkbrs312262890
gwascentralrs312262890
openSNPrs312262890
23andMers312262890
23andMe allrs312262890
SNP Nexus

SNPshotrs312262890
SNPdbers312262890
MSV3drs312262890
GWAS Ctlgrs312262890
Max Magnitude0
ClinVar
Risk rs312262890(AAGA;AAGA)
Alt rs312262890(AAGA;AAGA)
Reference rs312262890(;)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Simpson-Golabi-Behmel syndrome, type 2 Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13778702_13778705dupAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012299.14, RCV000033991.2,


[PMID 16783569] A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.