Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601368

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601368(C;C)
Make rs672601368(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240785062
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601368
ebirs672601368
HLIrs672601368
Exacrs672601368
Varsomers672601368
Maprs672601368
PheGenIrs672601368
hapmaprs672601368
1000 genomesrs672601368
hgdprs672601368
ensemblrs672601368
gopubmedrs672601368
geneviewrs672601368
scholarrs672601368
googlers672601368
pharmgkbrs672601368
gwascentralrs672601368
openSNPrs672601368
23andMers672601368
23andMe allrs672601368
SNP Nexus

SNPshotrs672601368
SNPdbers672601368
MSV3drs672601368
GWAS Ctlgrs672601368
Max Magnitude0
ClinVar
Risk rs672601368(A,C;A,C)
Alt rs672601368(A,C;A,C)
Reference rs672601368(G;G)
Significance Pathogenic
Disease Mental retardation PEHO syndrome
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9 PEHO syndrome
Reversed 1
HGVS NC_000002.11:g.241724479C>G; NC_000002.11:g.241724479C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149480.1, RCV000191021.3, RCV000207040.1,