Table 3. The 6 variants in OR51D1 that... | American Society of Hematology

Table 3.

The 6 variants in OR51D1 that contribute to the gene-level association with OS and TRM in recipients

Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	MAF
Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	Cohort 1	Cohort 2	Population‡
exm881159	11	4661190	C/G	rs138224979	T57S	Tolerated	G	2.54E−04	NA	4.50E−05
exm881165	11	4661280	C/T	rs148606808	S87F	Deleterious	T	3.81E−03	4.97E−03	2.40E−03
exm881174	11	4661373	A/C	rs141786655	H118P	Deleterious	C	5.08E−04	9.94E−04	3.00E−04
exm881176	11	4661424	G/A	rs61745314	R135H	Deleterious	A	2.54E−04	9.94E−04	1.50E−05
exm881178	11	4661451	G/A	rs200394876	R144H	Tolerated	A	1.02E−03	NA	2.00E−04
exm881179	11	4661457	C/T	rs149135276	A146V	Deleterious	T	7.61E−04	9.94E−04	1.00E−03

Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	MAF
Variant	Chromosome	Position	Alleles (ref/alt)	rsID	AA change*	Impact†	Minor allele	Cohort 1	Cohort 2	Population‡
exm881159	11	4661190	C/G	rs138224979	T57S	Tolerated	G	2.54E−04	NA	4.50E−05
exm881165	11	4661280	C/T	rs148606808	S87F	Deleterious	T	3.81E−03	4.97E−03	2.40E−03
exm881174	11	4661373	A/C	rs141786655	H118P	Deleterious	C	5.08E−04	9.94E−04	3.00E−04
exm881176	11	4661424	G/A	rs61745314	R135H	Deleterious	A	2.54E−04	9.94E−04	1.50E−05
exm881178	11	4661451	G/A	rs200394876	R144H	Tolerated	A	1.02E−03	NA	2.00E−04
exm881179	11	4661457	C/T	rs149135276	A146V	Deleterious	T	7.61E−04	9.94E−04	1.00E−03

NA, not applicable.

The amino acid changes are based on transcript NM_001004751.

Prediction of functional impact of the AA change by SIFT⁵⁶ or PolyPhen2.⁵⁷

The MAF in the Exome Aggregation Consortium⁵⁸ non-Finnish European population.