Variant "HBS1L:n.135418916A>G"
Search results: 3 records
Variant information
Gene:
Variant:
HBS1L:n.135418916A>G
Genomic location:
chr6:135418916(hg19)
HGVS:
SO Term | RefSeq |
---|---|
HBS1L-MYB:n.135418916A>G |
Alias:
HBS1L:rs7776054
dbSNP ID:
GWAS trait:
monocyte count,erythrocyte count,mean corpuscular hemoglobin concentration,mean corpuscular hemoglobin,hemoglobin measurement,hemoglobin A2 measurement,low density lipoprotein cholesterol measurement,hematocrit,mean corpuscular volume,red blood cell distribution width,platelet crit,platelet count,A1C measurement
Modifier statisitcs
Record:
3
Disorder:
2
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Altered Hb F levels(1)
,Altered levels of fetalhemoglobin and pain crisis(1)
,Altered severity(1)
Details: