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rs312262690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262690(-;-)
Make rs312262690(-;C)
Make rs312262690(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position79984831
GeneANTXR2
is asnp
is mentioned by
dbSNPrs312262690
ebirs312262690
HLIrs312262690
Exacrs312262690
Varsomers312262690
Maprs312262690
PheGenIrs312262690
hapmaprs312262690
1000 genomesrs312262690
hgdprs312262690
ensemblrs312262690
gopubmedrs312262690
geneviewrs312262690
scholarrs312262690
googlers312262690
pharmgkbrs312262690
gwascentralrs312262690
openSNPrs312262690
23andMers312262690
23andMe allrs312262690
SNP Nexus

SNPshotrs312262690
SNPdbers312262690
MSV3drs312262690
GWAS Ctlgrs312262690
Max Magnitude0
ClinVar
Risk rs312262690(CCT,CT;CCT,CT)
Alt rs312262690(CCT,CT;CCT,CT)
Reference rs312262690(T;T)
Significance Pathogenic
Disease Hyaline fibromatosis syndrome
Variation info
Gene ANTXR2
CLNDBN Hyaline fibromatosis syndrome
Reversed 1
HGVS NC_000004.11:g.80905986dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002722.2,