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rs730882178

From SNPedia

Orientationplus
Geno Mag Summary
(TTTCTC;TTTCTC) 0 common in clinvar
Make rs730882178(-;-)
Make rs730882178(-;TTCTCT)
Make rs730882178(TTCTCT;TTCTCT)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position78438954
GeneFRAS1
is asnp
is mentioned by
dbSNPrs730882178
ebirs730882178
HLIrs730882178
Exacrs730882178
Varsomers730882178
Maprs730882178
PheGenIrs730882178
hapmaprs730882178
1000 genomesrs730882178
hgdprs730882178
ensemblrs730882178
gopubmedrs730882178
geneviewrs730882178
scholarrs730882178
googlers730882178
pharmgkbrs730882178
gwascentralrs730882178
openSNPrs730882178
23andMers730882178
23andMe allrs730882178
SNP Nexus

SNPshotrs730882178
SNPdbers730882178
MSV3drs730882178
GWAS Ctlgrs730882178
Max Magnitude0
ClinVar
Risk rs730882178(;)
Alt rs730882178(;)
Reference rs730882178(TTTCTC;TTTCTC)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79360108_79360113delTTCTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002948.3,