Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1298695421
rs1298695421
HP ; TXNL4B
0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2019 2019
dbSNP: rs1298695421
rs1298695421
HP ; TXNL4B
0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2019 2019
dbSNP: rs2070937
rs2070937
HP ; TXNL4B
1.000 0.040 16 72055841 non coding transcript exon variant A/G snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2007 2007
dbSNP: rs4788458
rs4788458
HP ; TXNL4B
1.000 0.080 16 72054776 non coding transcript exon variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs5470
rs5470
HP ; TXNL4B
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470
HP ; TXNL4B
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0040592
Disease: Trachoma
Trachoma 		0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470
HP ; TXNL4B
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
HP ; TXNL4B
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0040592
Disease: Trachoma
Trachoma 		0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
HP ; TXNL4B
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
HP ; TXNL4B
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		0.010 1.000 1 2010 2010
dbSNP: rs5472
rs5472
HP ; TXNL4B
1.000 0.080 16 72054568 5 prime UTR variant A/G snv 0.33
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 1.000 1 2015 2015
dbSNP: rs5473
rs5473
HP ; TXNL4B
1.000 0.040 16 72059118 splice region variant G/A snv 1.2E-02 5.9E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2007 2007
dbSNP: rs9927981
rs9927981
HP ; TXNL4B
1.000 0.080 16 72054753 non coding transcript exon variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017