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

rs952094

From SNPedia

Orientationplus
Stabilizedplus
Make rs952094(A;A)
Make rs952094(A;G)
Make rs952094(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position158614301
GeneSPTA1
is asnp
is mentioned by
dbSNPrs952094
ebirs952094
HLIrs952094
Exacrs952094
Varsomers952094
Maprs952094
PheGenIrs952094
hapmaprs952094
1000 genomesrs952094
hgdprs952094
ensemblrs952094
gopubmedrs952094
geneviewrs952094
scholarrs952094
googlers952094
pharmgkbrs952094
gwascentralrs952094
openSNPrs952094
23andMers952094
23andMe allrs952094
SNP Nexus

SNPshotrs952094
SNPdbers952094
MSV3drs952094
GWAS Ctlgrs952094
GMAF0.4504
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SPTA1
allele G
frequency 0.408
sift TOLERATED
HuRef 1103675236035
Disease Association Defects in SPTA1 are the cause of spherocytosis type III (SPH3) (MIM:270970). SPH3 is a disorder characterized by severe hemolytic anemia. Inheritance is autosomal recessive.



GET Evidence
SPTA1-I2265T
aa_change Ile2265Thr
aa_change_short I2265T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.512291
summary