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rs200300612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200300612(A;G)
Make rs200300612(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position5565256
GeneEVC2
is asnp
is mentioned by
dbSNPrs200300612
dbSNP (old)rs200300612
ClinGenrs200300612
ebirs200300612
HLIrs200300612
Exacrs200300612
Gnomadrs200300612
Varsomers200300612
Maprs200300612
PheGenIrs200300612
Biobankrs200300612
1000 genomesrs200300612
hgdprs200300612
ensemblrs200300612
gopubmedrs200300612
geneviewrs200300612
scholarrs200300612
googlers200300612
pharmgkbrs200300612
gwascentralrs200300612
openSNPrs200300612
23andMers200300612
23andMe allrs200300612
SNPshotrs200300612
SNPdbers200300612
MSV3drs200300612
GWAS Ctlgrs200300612
Max Magnitude0
ClinVar
Risk rs200300612(G;G)
Alt rs200300612(G;G)
Reference Rs200300612(A;A)
Significance Probable-Pathogenic
Disease Ellis-van Creveld Syndrome
Variation info
Gene EVC2
CLNDBN Ellis-van Creveld Syndrome
Reversed 0
HGVS NC_000004.11:g.5566983A>G
CLNSRC Illumina
CLNACC RCV000324783.1,