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rs786203989

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786203989(A;G)
Make rs786203989(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position4340985
GeneCORO7-PAM16, PAM16
is asnp
is mentioned by
dbSNPrs786203989
ebirs786203989
HLIrs786203989
Exacrs786203989
Varsomers786203989
Maprs786203989
PheGenIrs786203989
hapmaprs786203989
1000 genomesrs786203989
hgdprs786203989
ensemblrs786203989
gopubmedrs786203989
geneviewrs786203989
scholarrs786203989
googlers786203989
pharmgkbrs786203989
gwascentralrs786203989
openSNPrs786203989
23andMers786203989
23andMe allrs786203989
SNP Nexus

SNPshotrs786203989
SNPdbers786203989
MSV3drs786203989
GWAS Ctlgrs786203989
Max Magnitude0
ClinVar
Risk rs786203989(G;G)
Alt rs786203989(G;G)
Reference rs786203989(A;A)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia
Variation info
Gene CORO7-PAM16 PAM16
CLNDBN Spondylometaphyseal dysplasia, megarbane-dagher-melki type
Reversed 1
HGVS NC_000016.9:g.4390986T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000167551.3,