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rs747806672

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747806672(C;T)
Make rs747806672(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position108897110
GeneEDAR
is asnp
is mentioned by
dbSNPrs747806672
ebirs747806672
HLIrs747806672
Exacrs747806672
Varsomers747806672
Maprs747806672
PheGenIrs747806672
hapmaprs747806672
1000 genomesrs747806672
hgdprs747806672
ensemblrs747806672
gopubmedrs747806672
geneviewrs747806672
scholarrs747806672
googlers747806672
pharmgkbrs747806672
gwascentralrs747806672
openSNPrs747806672
23andMers747806672
23andMe allrs747806672
SNP Nexus

SNPshotrs747806672
SNPdbers747806672
MSV3drs747806672
GWAS Ctlgrs747806672
Max Magnitude0
ClinVar
Risk rs747806672(T;T)
Alt rs747806672(T;T)
Reference rs747806672(C;C)
Significance Pathogenic
Disease Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Variation info
Gene EDAR
CLNDBN Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Reversed 0
HGVS NC_000002.11:g.109513566C>T
CLNSRC
CLNACC RCV000174400.1,