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rs730882180

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882180(G;T)
Make rs730882180(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position78472331
GeneFRAS1
is asnp
is mentioned by
dbSNPrs730882180
ebirs730882180
HLIrs730882180
Exacrs730882180
Varsomers730882180
Maprs730882180
PheGenIrs730882180
hapmaprs730882180
1000 genomesrs730882180
hgdprs730882180
ensemblrs730882180
gopubmedrs730882180
geneviewrs730882180
scholarrs730882180
googlers730882180
pharmgkbrs730882180
gwascentralrs730882180
openSNPrs730882180
23andMers730882180
23andMe allrs730882180
SNP Nexus

SNPshotrs730882180
SNPdbers730882180
MSV3drs730882180
GWAS Ctlgrs730882180
Max Magnitude0
ClinVar
Risk rs730882180(T;T)
Alt rs730882180(T;T)
Reference rs730882180(G;G)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79393485G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002950.3,