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: rs104894347
rs104894347
FGF23
0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		0.820 1.000 5 2000 2014
dbSNP: rs193922702
rs193922702
FGF23
1.000 0.200 12 4370563 missense variant C/T snv 4.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		0.820 1.000 4 2000 2006
dbSNP: rs104894342
rs104894342
FGF23
0.882 0.040 12 4379372 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.800 1.000 4 2005 2014
dbSNP: rs104894343
rs104894343
FGF23
1.000 12 4372622 missense variant A/G snv
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.800 1.000 4 2005 2014
dbSNP: rs104894344
rs104894344
FGF23
0.925 0.120 12 4370713 missense variant G/A snv
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.800 1.000 4 2005 2014
dbSNP: rs28937882
rs28937882
FGF23
1.000 0.200 12 4370564 missense variant G/A;T snv 4.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		0.800 0
dbSNP: rs772964687
rs772964687
FGF23
1.000 12 4370630 missense variant A/G snv 8.0E-06
CUI: C4693863
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 		0.700 1.000 4 2005 2014
dbSNP: rs104894342
rs104894342
FGF23
0.882 0.040 12 4379372 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs1220533001
rs1220533001
FGF23
1.000 12 4370732 missense variant C/A;G snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs1555096583
rs1555096583
FGF23
1.000 12 4370714 missense variant A/G snv
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.700 0
dbSNP: rs193922701
rs193922701
FGF23
1.000 0.200 12 4379421 missense variant C/G snv
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		0.700 0
dbSNP: rs863224872
rs863224872
FGF23
1.000 0.120 12 4372649 missense variant C/T snv
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.700 0
dbSNP: rs104894342
rs104894342
FGF23
0.882 0.040 12 4379372 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.020 1.000 2 2005 2006
dbSNP: rs104894344
rs104894344
FGF23
0.925 0.120 12 4370713 missense variant G/A snv
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.020 1.000 2 2016 2016
dbSNP: rs104894347
rs104894347
FGF23
0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.010 1.000 1 2014 2014
dbSNP: rs104894347
rs104894347
FGF23
0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs11063112
rs11063112
FGF23
1.000 0.040 12 4368914 3 prime UTR variant T/A;G snv
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		0.010 1.000 1 2019 2019
dbSNP: rs11063118
rs11063118
FGF23
0.925 0.080 12 4372398 intron variant T/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11063118
rs11063118
FGF23
0.925 0.080 12 4372398 intron variant T/C;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs13312756
rs13312756
FGF23
1.000 0.040 12 4378431 intron variant G/C snv 3.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2018 2018
dbSNP: rs13312789
rs13312789
FGF23
0.925 0.080 12 4371878 intron variant G/A snv 0.11
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs13312789
rs13312789
FGF23
0.925 0.080 12 4371878 intron variant G/A snv 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs1380738696
rs1380738696
FGF23
1.000 0.040 12 4379460 missense variant G/T snv 4.0E-06
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		0.010 1.000 1 2008 2008
dbSNP: rs3812822
rs3812822
FGF23
1.000 0.040 12 4380069 intron variant T/C snv 0.13
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2018 2018
dbSNP: rs3832879
rs3832879
FGF23
12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10
CUI: C0015967
Disease: Fever
Fever 		0.010 1.000 1 2013 2013