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rs587776737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776737(-;-)
Make rs587776737(-;CCTGGCTTTTATC)
Make rs587776737(CCTGGCTTTTATC;CCTGGCTTTTATC)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48515937
GenePORCN
is asnp
is mentioned by
dbSNPrs587776737
ebirs587776737
HLIrs587776737
Exacrs587776737
Varsomers587776737
Maprs587776737
PheGenIrs587776737
hapmaprs587776737
1000 genomesrs587776737
hgdprs587776737
ensemblrs587776737
gopubmedrs587776737
geneviewrs587776737
scholarrs587776737
googlers587776737
pharmgkbrs587776737
gwascentralrs587776737
openSNPrs587776737
23andMers587776737
23andMe allrs587776737
SNP Nexus

SNPshotrs587776737
SNPdbers587776737
MSV3drs587776737
GWAS Ctlgrs587776737
Max Magnitude0
ClinVar
Risk rs587776737(TCCCTGGCTTTTA;TCCCTGGCTTTTA)
Alt rs587776737(TCCCTGGCTTTTA;TCCCTGGCTTTTA)
Reference rs587776737(;)
Significance Pathogenic
Disease Focal dermal hypoplasia
Variation info
Gene PORCN
CLNDBN Focal dermal hypoplasia
Reversed 0
HGVS NC_000023.10:g.48374313_48374325dupCCTGGCTTTTATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011446.8,