PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
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: rs28933973
rs28933973 		1.000 0.040 10 70599048 missense variant G/A snv 1.2E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 11 1999 2017
dbSNP: rs104894181
rs104894181 		1.000 0.040 10 70598435 missense variant C/T snv 4.0E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 2 1999 2001
dbSNP: rs104894182
rs104894182 		1.000 0.040 10 70598885 missense variant C/T snv 2.0E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 2 1999 2001
dbSNP: rs104894183
rs104894183 		1.000 0.040 10 70599173 missense variant A/C snv
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 2 1999 2001
dbSNP: rs28933374
rs28933374 		1.000 0.040 10 70598687 missense variant G/A;T snv 4.0E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 2 1999 2001
dbSNP: rs189650890
rs189650890 		0.925 0.040 10 70598372 missense variant G/A snv 2.8E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 11 2005 2016
dbSNP: rs147462227
rs147462227 		1.000 0.040 10 70600458 missense variant C/T snv 1.4E-04 7.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2005 2015
dbSNP: rs147035858
rs147035858 		1.000 0.040 10 70600853 frameshift variant A/- del 2.4E-04 9.8E-04
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 6 1999 2013
dbSNP: rs147462227
rs147462227 		1.000 0.040 10 70600458 missense variant C/T snv 1.4E-04 7.0E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 5 1989 2011
dbSNP: rs138126912
rs138126912 		1.000 0.040 10 70598411 missense variant G/A snv 7.3E-04 7.3E-04
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 4 2011 2017
dbSNP: rs28933375
rs28933375 		0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2001
dbSNP: rs776299562
rs776299562 		1.000 0.040 10 70600755 missense variant C/G;T snv 4.8E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2001
dbSNP: rs104894176
rs104894176 		1.000 0.040 10 70598599 stop gained C/T snv 1.6E-05 2.8E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104894180
rs104894180 		1.000 0.040 10 70600713 stop gained G/A;C snv 4.0E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1060499556
rs1060499556 		1.000 0.040 10 70598601 missense variant A/C;G snv 4.1E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554867753
rs1554867753 		1.000 0.040 10 70598546 frameshift variant G/- delins
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1564723653
rs1564723653 		1.000 0.040 10 70598336 stop gained G/T snv
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs193302875
rs193302875 		1.000 0.040 10 70598558 missense variant C/A snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs193302876
rs193302876 		1.000 0.040 10 70598475 stop gained G/A snv 4.0E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs28933376
rs28933376 		1.000 0.040 10 70598417 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs751161742
rs751161742 		1.000 0.040 10 70598384 missense variant T/G snv 1.6E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs751247865
rs751247865 		1.000 0.040 10 70599055 missense variant G/T snv 3.6E-05 5.6E-05
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs752858869
rs752858869 		1.000 0.040 10 70598640 missense variant T/A snv 8.1E-06 7.0E-06
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs768849283
rs768849283 		0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.700 0
dbSNP: rs768849283
rs768849283 		0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0