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rs786205230

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205230(A;T)
Make rs786205230(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position147486067
GeneEDNRA
is asnp
is mentioned by
dbSNPrs786205230
ebirs786205230
HLIrs786205230
Exacrs786205230
Varsomers786205230
Maprs786205230
PheGenIrs786205230
hapmaprs786205230
1000 genomesrs786205230
hgdprs786205230
ensemblrs786205230
gopubmedrs786205230
geneviewrs786205230
scholarrs786205230
googlers786205230
pharmgkbrs786205230
gwascentralrs786205230
openSNPrs786205230
23andMers786205230
23andMe allrs786205230
SNP Nexus

SNPshotrs786205230
SNPdbers786205230
MSV3drs786205230
GWAS Ctlgrs786205230
Max Magnitude0
ClinVar
Risk rs786205230(T;T)
Alt rs786205230(T;T)
Reference rs786205230(A;A)
Significance Pathogenic
Disease Mandibulofacial dysostosis with alopecia
Variation info
Gene EDNRA
CLNDBN Mandibulofacial dysostosis with alopecia
Reversed 0
HGVS NC_000004.11:g.148407219A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170509.3,