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rs116297894

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3 Significance uncertain; *possible* association with spastic paraplegia
(A;G) 3 Carrier of a *possible* spastic paraplegia mutation, but significance is uncertain
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position240747320
GeneKIF1A
is asnp
is mentioned by
dbSNPrs116297894
dbSNP (old)rs116297894
ClinGenrs116297894
ebirs116297894
HLIrs116297894
Exacrs116297894
Gnomadrs116297894
Varsomers116297894
Maprs116297894
PheGenIrs116297894
Biobankrs116297894
1000 genomesrs116297894
hgdprs116297894
ensemblrs116297894
gopubmedrs116297894
geneviewrs116297894
scholarrs116297894
googlers116297894
pharmgkbrs116297894
gwascentralrs116297894
openSNPrs116297894
23andMers116297894
23andMe allrs116297894
SNPshotrs116297894
SNPdbers116297894
MSV3drs116297894
GWAS Ctlgrs116297894
Max Magnitude3
aka c.2676C>T, p.Ala892=, A993A

ClinVar indicated "likely benign" for a form of spastic paraplegia (type 30), listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so rather than benign, it is tagged as of "uncertain significance".