HOXA13, homeobox A13, 3209

N. diseases: 126; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912542
rs121912542
1.000 0.160 7 27198251 missense variant T/G snv
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 1.000 4 2000 2016
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 2 2018 2018
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 2 2018 2018
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs104894019
rs104894019
1.000 0.160 7 27198258 stop gained C/T snv
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1158254994
rs1158254994
1.000 0.160 7 27199671 stop gained G/A;T snv 7.4E-06
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs387906542
rs387906542
1.000 0.160 7 27199671 frameshift variant -/AGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC delins
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs17501292
rs17501292
1.000 0.080 7 27201854 non coding transcript exon variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs17501292
rs17501292
1.000 0.080 7 27201854 non coding transcript exon variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2067087
rs2067087
1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2071265
rs2071265
1.000 0.080 7 27199072 intron variant C/G snv 0.93
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018