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rs376960358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs376960358(C;C)
Make rs376960358(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position53951861
GeneBMP4
is asnp
is mentioned by
dbSNPrs376960358
ebirs376960358
HLIrs376960358
Exacrs376960358
Varsomers376960358
Maprs376960358
PheGenIrs376960358
hapmaprs376960358
1000 genomesrs376960358
hgdprs376960358
ensemblrs376960358
gopubmedrs376960358
geneviewrs376960358
scholarrs376960358
googlers376960358
pharmgkbrs376960358
gwascentralrs376960358
openSNPrs376960358
23andMers376960358
23andMe allrs376960358
SNP Nexus

SNPshotrs376960358
SNPdbers376960358
MSV3drs376960358
GWAS Ctlgrs376960358
Max Magnitude0
ClinVar
Risk rs376960358(C;C)
Alt rs376960358(C;C)
Reference rs376960358(T;T)
Significance Pathogenic
Disease Microphthalmia syndromic 6
Variation info
Gene BMP4
CLNDBN Microphthalmia syndromic 6
Reversed 0
HGVS NC_000014.8:g.54418579T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022458.29,