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rs749657986

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749657986(C;G)
Make rs749657986(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position4798564
GeneROGDI
is asnp
is mentioned by
dbSNPrs749657986
ebirs749657986
HLIrs749657986
Exacrs749657986
Varsomers749657986
Maprs749657986
PheGenIrs749657986
hapmaprs749657986
1000 genomesrs749657986
hgdprs749657986
ensemblrs749657986
gopubmedrs749657986
geneviewrs749657986
scholarrs749657986
googlers749657986
pharmgkbrs749657986
gwascentralrs749657986
openSNPrs749657986
23andMers749657986
23andMe allrs749657986
SNP Nexus

SNPshotrs749657986
SNPdbers749657986
MSV3drs749657986
GWAS Ctlgrs749657986
Max Magnitude0
ClinVar
Risk rs749657986(G;G)
Alt rs749657986(G;G)
Reference rs749657986(C;C)
Significance Pathogenic
Disease Kohlschutter's syndrome
Variation info
Gene ROGDI
CLNDBN Kohlschutter's syndrome
Reversed 0
HGVS NC_000016.9:g.4848565C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024226.3,