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rs869312728

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312728(A;A)
Make rs869312728(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6094199
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312728
ebirs869312728
HLIrs869312728
Exacrs869312728
Varsomers869312728
Maprs869312728
PheGenIrs869312728
hapmaprs869312728
1000 genomesrs869312728
hgdprs869312728
ensemblrs869312728
gopubmedrs869312728
geneviewrs869312728
scholarrs869312728
googlers869312728
pharmgkbrs869312728
gwascentralrs869312728
openSNPrs869312728
23andMers869312728
23andMe allrs869312728
SNP Nexus

SNPshotrs869312728
SNPdbers869312728
MSV3drs869312728
GWAS Ctlgrs869312728
Max Magnitude0
ClinVar
Risk rs869312728(A;A)
Alt rs869312728(A;A)
Reference rs869312728(G;G)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6074846C>T
CLNSRC
CLNACC RCV000209831.1,