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rs774047299

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs774047299(C;C)
Make rs774047299(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position95606805
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs774047299
ebirs774047299
HLIrs774047299
Exacrs774047299
Varsomers774047299
Maprs774047299
PheGenIrs774047299
hapmaprs774047299
1000 genomesrs774047299
hgdprs774047299
ensemblrs774047299
gopubmedrs774047299
geneviewrs774047299
scholarrs774047299
googlers774047299
pharmgkbrs774047299
gwascentralrs774047299
openSNPrs774047299
23andMers774047299
23andMe allrs774047299
SNP Nexus

SNPshotrs774047299
SNPdbers774047299
MSV3drs774047299
GWAS Ctlgrs774047299
Max Magnitude0
ClinVar
Risk rs774047299(C,G;C,G)
Alt rs774047299(C,G;C,G)
Reference rs774047299(T;T)
Significance Pathogenic
Disease Cutis laxa-corneal clouding-oligophrenia syndrome
Variation info
Gene ALDH18A1
CLNDBN Cutis laxa-corneal clouding-oligophrenia syndrome
Reversed 0
HGVS NC_000010.10:g.97366562T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201224.2,