Source: ALL

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: rs11033026
rs11033026
CD44
11 35201756 synonymous variant G/A snv 2.2E-02 8.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs112762
rs112762
CD44
1.000 0.080 11 35171082 intron variant C/G;T snv
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs12275533
rs12275533
CD44
11 35149480 intron variant G/A snv 2.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs353612
rs353612
CD44
1.000 0.080 11 35158104 intron variant G/A snv 0.23
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs353616
rs353616
CD44
11 35155029 intron variant A/C snv 1.9E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs353616
rs353616
CD44
11 35155029 intron variant A/C snv 1.9E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs353618
rs353618
CD44
1.000 0.080 11 35153498 intron variant T/C snv 0.32
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs353623
rs353623
CD44
1.000 0.080 11 35150575 intron variant G/A snv 0.32
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs353630
rs353630
CD44
1.000 0.080 11 35166644 intron variant G/A snv 0.33
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs353637
rs353637
CD44 ; SNORD164
1.000 0.080 11 35163005 intron variant A/T snv 0.17
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs353647
rs353647
CD44
1.000 0.080 11 35169898 intron variant C/G snv 0.49
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs3794105
rs3794105
CD44
1.000 0.080 11 35179369 intron variant G/A snv 0.19
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs3794109
rs3794109
CD44
1.000 0.080 11 35170732 intron variant A/G snv 0.16
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs3794110
rs3794110
CD44
1.000 0.080 11 35170667 intron variant G/A snv 0.16
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs7110737
rs7110737
CD44
1.000 0.080 11 35200315 intron variant T/A snv 0.34
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs7116432
rs7116432
CD44
1.000 0.080 11 35222511 3 prime UTR variant A/G snv 0.34
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7116432
rs7116432
CD44
1.000 0.080 11 35222511 3 prime UTR variant A/G snv 0.34
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		0.700 1.000 1 2014 2014
dbSNP: rs7131335
rs7131335
CD44
11 35177114 intron variant T/C snv 2.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7131335
rs7131335
CD44
11 35177114 intron variant T/C snv 2.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 0.750 4 2016 2019
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2016 2019
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2012 2018
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2016 2016
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2012 2018
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2016 2016