Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE ×
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: rs74315348
rs74315348 		0.925 0.080 1 179552605 missense variant G/A;C snv 2.0E-05; 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2000 2014
dbSNP: rs200482683
rs200482683 		0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 8 2002 2014
dbSNP: rs749740335
rs749740335 		0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 8 2000 2011
dbSNP: rs199506378
rs199506378 		0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 2002 2015
dbSNP: rs775006954
rs775006954 		0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2004 2015
dbSNP: rs775170915
rs775170915 		0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2004 2013
dbSNP: rs1490010141
rs1490010141 		0.925 0.080 1 179552614 missense variant C/T snv 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2002 2015
dbSNP: rs1553312833
rs1553312833 		0.925 0.080 1 179552602 splice donor variant C/T snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014
dbSNP: rs967339926
rs967339926 		0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2015 2016
dbSNP: rs763818901
rs763818901 		0.925 0.080 1 179551361 stop gained G/A;C snv 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1031744496
rs1031744496 		0.925 0.080 1 179551453 splice acceptor variant T/G snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516523
rs1057516523 		0.925 0.080 1 179552682 splice acceptor variant C/T snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516900
rs1057516900 		0.925 0.080 1 179551262 frameshift variant -/G delins 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517164
rs1057517164 		0.925 0.080 1 179552617 stop gained G/A snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs776016942
rs776016942 		0.925 0.080 1 179551452 splice acceptor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869312747
rs869312747 		0.925 0.080 1 179552664 missense variant G/A snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0