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rs587777697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATC;ATC) 0 common in clinvar
(I;I) 0 common genotype
(TCA;TCA) 0 common in clinvar
Make rs587777697(-;-)
Make rs587777697(-;TCA)
ReferenceGRCh38 38.1/142
Chromosome9
Position4576754
GeneSLC1A1, SPATA6L
is asnp
is mentioned by
dbSNPrs587777697
dbSNP (classic)rs587777697
ClinGenrs587777697
ebirs587777697
HLIrs587777697
Exacrs587777697
Gnomadrs587777697
Varsomers587777697
LitVarrs587777697
Maprs587777697
PheGenIrs587777697
Biobankrs587777697
1000 genomesrs587777697
hgdprs587777697
ensemblrs587777697
geneviewrs587777697
scholarrs587777697
googlers587777697
pharmgkbrs587777697
gwascentralrs587777697
openSNPrs587777697
23andMers587777697
SNPshotrs587777697
SNPdbers587777697
MSV3drs587777697
GWAS Ctlgrs587777697
Max Magnitude0
ClinVar
Risk rs587777697(-;-) Rs587777697(ATC;ATC)
Alt rs587777697(-;-) Rs587777697(ATC;ATC)
Reference Rs587777697(TCA;TCA)
Significance Pathogenic
Disease Dicarboxylic aminoaciduria
Variation info
Gene SLC1A1 SPATA6L
CLNDBN Dicarboxylic aminoaciduria
Reversed 0
HGVS NC_000009.11:g.4576754_4576756delTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000143977.3,