DVL1, dishevelled segment polarity protein 1, 1855

N. diseases: 181; 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: rs1553173425
rs1553173425 		1 1338112 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2007 2015
dbSNP: rs797044834
rs797044834 		1.000 1 1338099 frameshift variant CGGGTGGGGCAGC/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 2 2015 2018
dbSNP: rs307359
rs307359 		1 1344634 intron variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs797044833
rs797044833 		1.000 1 1338045 frameshift variant AA/G delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2015 2015
dbSNP: rs797044835
rs797044835 		1.000 1 1338097 frameshift variant A/- del
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2015 2015
dbSNP: rs797044836
rs797044836 		1.000 1 1338108 frameshift variant G/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2015 2015
dbSNP: rs797044837
rs797044837 		1.000 1 1338001 frameshift variant T/- del
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2015 2015
dbSNP: rs797044838
rs797044838 		1.000 1 1338087 frameshift variant C/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2015 2015
dbSNP: rs869025220
rs869025220 		1.000 1 1338093 frameshift variant G/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 1.000 1 2016 2016
dbSNP: rs1553173367
rs1553173367 		1.000 1 1337993 frameshift variant C/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1553173368
rs1553173368 		1.000 1 1337993 frameshift variant CGGTGCTGCCGCTGCC/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1553173372
rs1553173372 		1.000 1 1337999 frameshift variant -/CTGCC delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1553173420
rs1553173420 		1.000 1 1338108 frameshift variant TGGGGCAGCGGGG/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs797044839
rs797044839 		1.000 1 1338054 frameshift variant G/- delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs797044840
rs797044840 		1.000 1 1338033 frameshift variant TAGGCAGG/C delins
CUI: C4225363
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs61735963
rs61735963 		1.000 0.040 1 1341803 missense variant C/A;T snv 2.9E-05; 1.5E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019