Source: CLINVAR

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: rs7675998
rs7675998 		0.827 0.360 4 163086668 intergenic variant A/G;T snv
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		0.700 0
dbSNP: rs669
rs669
A2M ; KLRG1
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
ALZHEIMER DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1409944554
rs1409944554
A2ML1
1.000 12 8822661 stop gained C/T snv 4.0E-06
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 1.000 1 2019 2019
dbSNP: rs202067416
rs202067416
A2ML1
1.000 12 8868358 splice donor variant G/A;C snv 9.9E-04 1.1E-03
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 1.000 1 2019 2019
dbSNP: rs863224951
rs863224951
A2ML1
1.000 12 8852222 frameshift variant -/GGCTAAAT delins
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs397514502
rs397514502
A4GALT
1.000 22 42693321 missense variant G/C snv
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME 		0.700 0
dbSNP: rs778598915
rs778598915
A4GALT
1.000 0.080 22 42693910 synonymous variant G/A;T snv 2.2E-05
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.810 1.000 7 2001 2012
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1980 2015
dbSNP: rs770214071
rs770214071
AAAS
1.000 0.080 12 53308469 frameshift variant CAGA/- delins 2.8E-05 7.7E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 1.000 2 2002 2012
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.810 1.000 1 2001 2008
dbSNP: rs773601814
rs773601814
AAAS
1.000 0.080 12 53309018 missense variant A/G;T snv 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 1.000 1 2003 2003
dbSNP: rs1035139364
rs1035139364
AAAS
1.000 0.080 12 53308724 splice donor variant C/T snv 7.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs121918547
rs121918547
AAAS
1.000 0.080 12 53309158 stop gained G/A;C snv 1.6E-05; 4.0E-06; 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs121918548
rs121918548
AAAS
1.000 0.080 12 53307698 stop gained G/A snv 4.0E-05 7.7E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.720 1.000 0 2004 2018
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.700 0
dbSNP: rs121918549
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.700 0
dbSNP: rs121918550
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs121918551
rs121918551
AAAS
0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs150511103
rs150511103
AAAS
1.000 0.080 12 53308051 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.8E-05
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0
dbSNP: rs1565781382
rs1565781382
AAAS
1.000 0.080 12 53315142 splice acceptor variant T/C snv
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.700 0