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rs730882179

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882179(-;-)
Make rs730882179(-;GG)
Make rs730882179(GG;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position78464518
GeneFRAS1
is asnp
is mentioned by
dbSNPrs730882179
ebirs730882179
HLIrs730882179
Exacrs730882179
Varsomers730882179
Maprs730882179
PheGenIrs730882179
hapmaprs730882179
1000 genomesrs730882179
hgdprs730882179
ensemblrs730882179
gopubmedrs730882179
geneviewrs730882179
scholarrs730882179
googlers730882179
pharmgkbrs730882179
gwascentralrs730882179
openSNPrs730882179
23andMers730882179
23andMe allrs730882179
SNP Nexus

SNPshotrs730882179
SNPdbers730882179
MSV3drs730882179
GWAS Ctlgrs730882179
Max Magnitude0
ClinVar
Risk rs730882179(GG;GG)
Alt rs730882179(GG;GG)
Reference rs730882179(;)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79385671_79385672dupGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002949.4,