Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312730

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312730(G;G)
Make rs869312730(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6089053
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312730
ebirs869312730
HLIrs869312730
Exacrs869312730
Varsomers869312730
Maprs869312730
PheGenIrs869312730
hapmaprs869312730
1000 genomesrs869312730
hgdprs869312730
ensemblrs869312730
gopubmedrs869312730
geneviewrs869312730
scholarrs869312730
googlers869312730
pharmgkbrs869312730
gwascentralrs869312730
openSNPrs869312730
23andMers869312730
23andMe allrs869312730
SNP Nexus

SNPshotrs869312730
SNPdbers869312730
MSV3drs869312730
GWAS Ctlgrs869312730
Max Magnitude0
ClinVar
Risk rs869312730(G;G)
Alt rs869312730(G;G)
Reference rs869312730(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6069700A>C
CLNSRC
CLNACC RCV000209929.1,