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rs121918542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918542(C;T)
Make rs121918542(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232768790
GeneGIGYF2, KCNJ13
is asnp
is mentioned by
dbSNPrs121918542
ebirs121918542
HLIrs121918542
Exacrs121918542
Varsomers121918542
Maprs121918542
PheGenIrs121918542
hapmaprs121918542
1000 genomesrs121918542
hgdprs121918542
ensemblrs121918542
gopubmedrs121918542
geneviewrs121918542
scholarrs121918542
googlers121918542
pharmgkbrs121918542
gwascentralrs121918542
openSNPrs121918542
23andMers121918542
23andMe allrs121918542
SNP Nexus

SNPshotrs121918542
SNPdbers121918542
MSV3drs121918542
GWAS Ctlgrs121918542
Max Magnitude0
OMIM603208
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918542(T;T)
Alt rs121918542(T;T)
Reference rs121918542(C;C)
Significance Pathogenic
Disease Snowflake vitreoretinal degeneration
Variation info
Gene GIGYF2 KCNJ13 LOC101928854
CLNDBN Snowflake vitreoretinal degeneration
Reversed 1
HGVS NC_000002.11:g.233633500G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006963.3,