|
rs104894419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
|
rs104894419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
|
rs1555908409
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs3218716
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs74315329
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs777018011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a missense mutation (c. 3178C>T; p.R1060C) in POLD1 in 3 related subjects who presented with recurrent, especially herpetic, infections and T-cell lymphopenia with impaired T-cell but not B-cell proliferation.
|
31629014 |
2020 |
|
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV).
|
30914949 |
2019 |
|
rs1461664423
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 3 patients with de novo RAC2[E62K] mutations resulting in severe T- and B-cell lymphopenia, myeloid dysfunction, and recurrent respiratory infections.
|
30723080 |
2019 |
|
rs238406
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV).
|
30914949 |
2019 |
|
rs2740574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV).
|
30914949 |
2019 |
|
rs11706052
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ABCC1 (rs2074087) (P = 0.022, OR = 3.406), IMPDH1 (rs2278294) (P = 0.027, OR = 0.276), and IMPDH2 (rs11706052) (P = 0.034, OR = 3.639) had a significant impact on lymphopenia.
|
26332308 |
2015 |
|
rs2074087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ABCC1 (rs2074087) (P = 0.022, OR = 3.406), IMPDH1 (rs2278294) (P = 0.027, OR = 0.276), and IMPDH2 (rs11706052) (P = 0.034, OR = 3.639) had a significant impact on lymphopenia.
|
26332308 |
2015 |
|
rs2278294
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ABCC1 (rs2074087) (P = 0.022, OR = 3.406), IMPDH1 (rs2278294) (P = 0.027, OR = 0.276), and IMPDH2 (rs11706052) (P = 0.034, OR = 3.639) had a significant impact on lymphopenia.
|
26332308 |
2015 |
|
rs25487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
XRCC1 A1196G was associated with the incidence of lymphopenia (p = 0.024) and diarrhea (p = 0.020).
|
26033426 |
2015 |
|
rs1234314
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our research suggests association of rs2205960-T with SLE across multiple groups and an independent non-risk signal at rs1234314-C. rs2205960-T is associated with autoantibody production and lymphopenia.
|
23874208 |
2013 |
|
rs2205960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our research suggests association of rs2205960-T with SLE across multiple groups and an independent non-risk signal at rs1234314-C. rs2205960-T is associated with autoantibody production and lymphopenia.
|
23874208 |
2013 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that Hfe has an effect in the shaping of T-cell populations either directly, as indicated by the lymphopenia seen in the two chains in C282Y heterozygous without iron overload, or indirectly by contributing to iron overload pathology.
|
11334672 |
2001 |