RNF212, ring finger protein 212, 285498

N. diseases: 3; N. variants: 3
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: rs1670533
rs1670533 		4 1084399 intron variant G/A snv 0.82
CUI: C2677576
Disease: RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs3796619
rs3796619 		4 1101493 non coding transcript exon variant A/G snv 0.56
CUI: C2677576
Disease: RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs4045481
rs4045481 		1.000 0.040 4 1096837 stop gained G/A snv 0.64 0.57
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4045481
rs4045481 		1.000 0.040 4 1096837 stop gained G/A snv 0.64 0.57
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2018 2018