HHIP, hedgehog interacting protein, 64399

N. diseases: 122; N. variants: 16
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: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 4 2008 2019
dbSNP: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C0489786
Disease: Height
Height
0.700 1.000 2 2008 2010
dbSNP: rs6845999
rs6845999
4 144644674 intron variant C/T snv 0.35
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 2 2015 2019
dbSNP: rs13106087
rs13106087
4 144645712 non coding transcript exon variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs13125694
rs13125694
4 144645696 intron variant C/T snv 0.34
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1492820
rs1492820
4 144728869 intron variant G/A snv 0.50
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2008 2008
dbSNP: rs1492820
rs1492820
4 144728869 intron variant G/A snv 0.50
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2008 2008
dbSNP: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C0455806
Disease: Infant length
Infant length
0.700 1.000 1 2015 2015
dbSNP: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2017 2017
dbSNP: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1812175
rs1812175
4 144653692 intron variant A/G snv 0.79
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2131354
rs2131354
4 144678756 intron variant G/A snv 0.41
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs2131354
rs2131354
4 144678756 intron variant G/A snv 0.41
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs6537307
rs6537307
4 144680711 intron variant A/G snv 0.39
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs6845999
rs6845999
4 144644674 intron variant C/T snv 0.35
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs6854783
rs6854783
4 144721927 intron variant G/A;C snv
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2008 2008
dbSNP: rs6854783
rs6854783
4 144721927 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2008 2008
dbSNP: rs7654947
rs7654947
1.000 0.040 4 144704578 intron variant C/T snv 0.57
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11727676
rs11727676
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2015 2018
dbSNP: rs7689420
rs7689420
0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 3 2010 2019
dbSNP: rs7689420
rs7689420
0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79
CUI: C0489786
Disease: Height
Height
0.700 1.000 2 2010 2013
dbSNP: rs11727676
rs11727676
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs11727676
rs11727676
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs11727676
rs11727676
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs11727676
rs11727676
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019