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Select item 14915190361.

rs1491519036 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:17257031 (GRCh38)
1:17583526 (GRCh37)
Canonical SPDI:: NC_000001.11:17257030:CA:
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.17257031_17257032del, NC_000001.10:g.17583526_17583527del, NG_052788.1:g.12953_12954del, NW_011332688.1:g.99545_99546del

Select item 14914273842.

rs1491427384 has merged into rs967292996 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:17257043 (GRCh38)
1:17583538 (GRCh37)
Canonical SPDI:: NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17257031:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PADI3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.17257043_17257059del, NC_000001.11:g.17257044_17257059del, NC_000001.11:g.17257045_17257059del, NC_000001.11:g.17257046_17257059del, NC_000001.11:g.17257047_17257059del, NC_000001.11:g.17257048_17257059del, NC_000001.11:g.17257049_17257059del, NC_000001.11:g.17257050_17257059del, NC_000001.11:g.17257051_17257059del, NC_000001.11:g.17257052_17257059del, NC_000001.11:g.17257055_17257059del, NC_000001.11:g.17257056_17257059del, NC_000001.11:g.17257057_17257059del, NC_000001.11:g.17257058_17257059del, NC_000001.11:g.17257059del, NC_000001.11:g.17257059dup, NC_000001.11:g.17257058_17257059dup, NC_000001.11:g.17257057_17257059dup, NC_000001.11:g.17257056_17257059dup, NC_000001.11:g.17257055_17257059dup, NC_000001.11:g.17257054_17257059dup, NC_000001.11:g.17257053_17257059dup, NC_000001.11:g.17257052_17257059dup, NC_000001.11:g.17257051_17257059dup, NC_000001.11:g.17257050_17257059dup, NC_000001.10:g.17583538_17583554del, NC_000001.10:g.17583539_17583554del, NC_000001.10:g.17583540_17583554del, NC_000001.10:g.17583541_17583554del, NC_000001.10:g.17583542_17583554del, NC_000001.10:g.17583543_17583554del, NC_000001.10:g.17583544_17583554del, NC_000001.10:g.17583545_17583554del, NC_000001.10:g.17583546_17583554del, NC_000001.10:g.17583547_17583554del, NC_000001.10:g.17583550_17583554del, NC_000001.10:g.17583551_17583554del, NC_000001.10:g.17583552_17583554del, NC_000001.10:g.17583553_17583554del, NC_000001.10:g.17583554del, NC_000001.10:g.17583554dup, NC_000001.10:g.17583553_17583554dup, NC_000001.10:g.17583552_17583554dup, NC_000001.10:g.17583551_17583554dup, NC_000001.10:g.17583550_17583554dup, NC_000001.10:g.17583549_17583554dup, NC_000001.10:g.17583548_17583554dup, NC_000001.10:g.17583547_17583554dup, NC_000001.10:g.17583546_17583554dup, NC_000001.10:g.17583545_17583554dup, NG_052788.1:g.12965_12981del, NG_052788.1:g.12966_12981del, NG_052788.1:g.12967_12981del, NG_052788.1:g.12968_12981del, NG_052788.1:g.12969_12981del, NG_052788.1:g.12970_12981del, NG_052788.1:g.12971_12981del, NG_052788.1:g.12972_12981del, NG_052788.1:g.12973_12981del, NG_052788.1:g.12974_12981del, NG_052788.1:g.12977_12981del, NG_052788.1:g.12978_12981del, NG_052788.1:g.12979_12981del, NG_052788.1:g.12980_12981del, NG_052788.1:g.12981del, NG_052788.1:g.12981dup, NG_052788.1:g.12980_12981dup, NG_052788.1:g.12979_12981dup, NG_052788.1:g.12978_12981dup, NG_052788.1:g.12977_12981dup, NG_052788.1:g.12976_12981dup, NG_052788.1:g.12975_12981dup, NG_052788.1:g.12974_12981dup, NG_052788.1:g.12973_12981dup, NG_052788.1:g.12972_12981dup, NW_011332688.1:g.99557_99573del, NW_011332688.1:g.99558_99573del, NW_011332688.1:g.99559_99573del, NW_011332688.1:g.99560_99573del, NW_011332688.1:g.99561_99573del, NW_011332688.1:g.99562_99573del, NW_011332688.1:g.99563_99573del, NW_011332688.1:g.99564_99573del, NW_011332688.1:g.99565_99573del, NW_011332688.1:g.99566_99573del, NW_011332688.1:g.99569_99573del, NW_011332688.1:g.99570_99573del, NW_011332688.1:g.99571_99573del, NW_011332688.1:g.99572_99573del, NW_011332688.1:g.99573del, NW_011332688.1:g.99573dup, NW_011332688.1:g.99572_99573dup, NW_011332688.1:g.99571_99573dup, NW_011332688.1:g.99570_99573dup, NW_011332688.1:g.99569_99573dup, NW_011332688.1:g.99568_99573dup, NW_011332688.1:g.99567_99573dup, NW_011332688.1:g.99566_99573dup, NW_011332688.1:g.99565_99573dup, NW_011332688.1:g.99564_99573dup

Select item 14913566423.

rs1491356642 has merged into rs10617336 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:17275446 (GRCh38)
1:17601941 (GRCh37)
Canonical SPDI:: NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.17275446_17275459del, NC_000001.11:g.17275447_17275459del, NC_000001.11:g.17275448_17275459del, NC_000001.11:g.17275449_17275459del, NC_000001.11:g.17275450_17275459del, NC_000001.11:g.17275451_17275459del, NC_000001.11:g.17275452_17275459del, NC_000001.11:g.17275453_17275459del, NC_000001.11:g.17275454_17275459del, NC_000001.11:g.17275455_17275459del, NC_000001.11:g.17275456_17275459del, NC_000001.11:g.17275457_17275459del, NC_000001.11:g.17275458_17275459del, NC_000001.11:g.17275459del, NC_000001.11:g.17275459dup, NC_000001.11:g.17275458_17275459dup, NC_000001.11:g.17275457_17275459dup, NC_000001.11:g.17275456_17275459dup, NC_000001.11:g.17275455_17275459dup, NC_000001.11:g.17275454_17275459dup, NC_000001.11:g.17275452_17275459dup, NC_000001.11:g.17275450_17275459dup, NC_000001.11:g.17275449_17275459dup, NC_000001.11:g.17275448_17275459dup, NC_000001.11:g.17275447_17275459dup, NC_000001.11:g.17275445_17275459dup, NC_000001.11:g.17275444_17275459dup, NC_000001.11:g.17275443_17275459dup, NC_000001.11:g.17275441_17275459dup, NC_000001.10:g.17601941_17601954del, NC_000001.10:g.17601942_17601954del, NC_000001.10:g.17601943_17601954del, NC_000001.10:g.17601944_17601954del, NC_000001.10:g.17601945_17601954del, NC_000001.10:g.17601946_17601954del, NC_000001.10:g.17601947_17601954del, NC_000001.10:g.17601948_17601954del, NC_000001.10:g.17601949_17601954del, NC_000001.10:g.17601950_17601954del, NC_000001.10:g.17601951_17601954del, NC_000001.10:g.17601952_17601954del, NC_000001.10:g.17601953_17601954del, NC_000001.10:g.17601954del, NC_000001.10:g.17601954dup, NC_000001.10:g.17601953_17601954dup, NC_000001.10:g.17601952_17601954dup, NC_000001.10:g.17601951_17601954dup, NC_000001.10:g.17601950_17601954dup, NC_000001.10:g.17601949_17601954dup, NC_000001.10:g.17601947_17601954dup, NC_000001.10:g.17601945_17601954dup, NC_000001.10:g.17601944_17601954dup, NC_000001.10:g.17601943_17601954dup, NC_000001.10:g.17601942_17601954dup, NC_000001.10:g.17601940_17601954dup, NC_000001.10:g.17601939_17601954dup, NC_000001.10:g.17601938_17601954dup, NC_000001.10:g.17601936_17601954dup, NG_052788.1:g.31368_31381del, NG_052788.1:g.31369_31381del, NG_052788.1:g.31370_31381del, NG_052788.1:g.31371_31381del, NG_052788.1:g.31372_31381del, NG_052788.1:g.31373_31381del, NG_052788.1:g.31374_31381del, NG_052788.1:g.31375_31381del, NG_052788.1:g.31376_31381del, NG_052788.1:g.31377_31381del, NG_052788.1:g.31378_31381del, NG_052788.1:g.31379_31381del, NG_052788.1:g.31380_31381del, NG_052788.1:g.31381del, NG_052788.1:g.31381dup, NG_052788.1:g.31380_31381dup, NG_052788.1:g.31379_31381dup, NG_052788.1:g.31378_31381dup, NG_052788.1:g.31377_31381dup, NG_052788.1:g.31376_31381dup, NG_052788.1:g.31374_31381dup, NG_052788.1:g.31372_31381dup, NG_052788.1:g.31371_31381dup, NG_052788.1:g.31370_31381dup, NG_052788.1:g.31369_31381dup, NG_052788.1:g.31367_31381dup, NG_052788.1:g.31366_31381dup, NG_052788.1:g.31365_31381dup, NG_052788.1:g.31363_31381dup, NW_011332688.1:g.117960_117973del, NW_011332688.1:g.117961_117973del, NW_011332688.1:g.117962_117973del, NW_011332688.1:g.117963_117973del, NW_011332688.1:g.117964_117973del, NW_011332688.1:g.117965_117973del, NW_011332688.1:g.117966_117973del, NW_011332688.1:g.117967_117973del, NW_011332688.1:g.117968_117973del, NW_011332688.1:g.117969_117973del, NW_011332688.1:g.117970_117973del, NW_011332688.1:g.117971_117973del, NW_011332688.1:g.117972_117973del, NW_011332688.1:g.117973del, NW_011332688.1:g.117973dup, NW_011332688.1:g.117972_117973dup, NW_011332688.1:g.117971_117973dup, NW_011332688.1:g.117970_117973dup, NW_011332688.1:g.117969_117973dup, NW_011332688.1:g.117968_117973dup, NW_011332688.1:g.117966_117973dup, NW_011332688.1:g.117964_117973dup, NW_011332688.1:g.117963_117973dup, NW_011332688.1:g.117962_117973dup, NW_011332688.1:g.117961_117973dup, NW_011332688.1:g.117959_117973dup, NW_011332688.1:g.117958_117973dup, NW_011332688.1:g.117957_117973dup, NW_011332688.1:g.117955_117973dup

Select item 14912289144.

rs1491228914 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACAT [Show Flanks]
Chromosome:: 1:17264363 (GRCh38)
1:17590859 (GRCh37)
Canonical SPDI:: NC_000001.11:17264363::ACACAT
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACAT=0./0 (ALFA)
ACACAT=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.17264363_17264364insACACAT, NC_000001.10:g.17590858_17590859insACACAT, NG_052788.1:g.20285_20286insACACAT, NW_011332688.1:g.106877_106878insACACAT

Select item 14911615665.

rs1491161566 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:17264331 (GRCh38)
1:17590826 (GRCh37)
Canonical SPDI:: NC_000001.11:17264330:TA:
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000135/14 (GnomAD)
HGVS:: NC_000001.11:g.17264331_17264332del, NC_000001.10:g.17590826_17590827del, NG_052788.1:g.20253_20254del, NW_011332688.1:g.106845_106846del

Select item 14911048926.

rs1491104892 has merged into rs55649122 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:17252411 (GRCh38)
1:17578906 (GRCh37)
Canonical SPDI:: NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:17252400:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3768/1887 (1000Genomes)
HGVS:: NC_000001.11:g.17252411_17252416del, NC_000001.11:g.17252413_17252416del, NC_000001.11:g.17252414_17252416del, NC_000001.11:g.17252415_17252416del, NC_000001.11:g.17252416del, NC_000001.11:g.17252416dup, NC_000001.11:g.17252415_17252416dup, NC_000001.11:g.17252414_17252416dup, NC_000001.11:g.17252413_17252416dup, NC_000001.11:g.17252412_17252416dup, NC_000001.11:g.17252411_17252416dup, NC_000001.11:g.17252410_17252416dup, NC_000001.10:g.17578906_17578911del, NC_000001.10:g.17578908_17578911del, NC_000001.10:g.17578909_17578911del, NC_000001.10:g.17578910_17578911del, NC_000001.10:g.17578911del, NC_000001.10:g.17578911dup, NC_000001.10:g.17578910_17578911dup, NC_000001.10:g.17578909_17578911dup, NC_000001.10:g.17578908_17578911dup, NC_000001.10:g.17578907_17578911dup, NC_000001.10:g.17578906_17578911dup, NC_000001.10:g.17578905_17578911dup, NG_052788.1:g.8333_8338del, NG_052788.1:g.8335_8338del, NG_052788.1:g.8336_8338del, NG_052788.1:g.8337_8338del, NG_052788.1:g.8338del, NG_052788.1:g.8338dup, NG_052788.1:g.8337_8338dup, NG_052788.1:g.8336_8338dup, NG_052788.1:g.8335_8338dup, NG_052788.1:g.8334_8338dup, NG_052788.1:g.8333_8338dup, NG_052788.1:g.8332_8338dup, NW_011332688.1:g.94925_94930del, NW_011332688.1:g.94927_94930del, NW_011332688.1:g.94928_94930del, NW_011332688.1:g.94929_94930del, NW_011332688.1:g.94930del, NW_011332688.1:g.94930dup, NW_011332688.1:g.94929_94930dup, NW_011332688.1:g.94928_94930dup, NW_011332688.1:g.94927_94930dup, NW_011332688.1:g.94926_94930dup, NW_011332688.1:g.94925_94930dup, NW_011332688.1:g.94924_94930dup

Select item 14910916277.

rs1491091627 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:17275436 (GRCh38)
1:17601931 (GRCh37)
Canonical SPDI:: NC_000001.11:17275435:CA:
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00295/35 (ALFA)
-=0.00051/12 (TOMMO)
HGVS:: NC_000001.11:g.17275436_17275437del, NC_000001.10:g.17601931_17601932del, NG_052788.1:g.31358_31359del, NW_011332688.1:g.117950_117951del

Select item 14910877418.

rs1491087741 has merged into rs10617336 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:17275446 (GRCh38)
1:17601941 (GRCh37)
Canonical SPDI:: NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:17275436:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.17275446_17275459del, NC_000001.11:g.17275447_17275459del, NC_000001.11:g.17275448_17275459del, NC_000001.11:g.17275449_17275459del, NC_000001.11:g.17275450_17275459del, NC_000001.11:g.17275451_17275459del, NC_000001.11:g.17275452_17275459del, NC_000001.11:g.17275453_17275459del, NC_000001.11:g.17275454_17275459del, NC_000001.11:g.17275455_17275459del, NC_000001.11:g.17275456_17275459del, NC_000001.11:g.17275457_17275459del, NC_000001.11:g.17275458_17275459del, NC_000001.11:g.17275459del, NC_000001.11:g.17275459dup, NC_000001.11:g.17275458_17275459dup, NC_000001.11:g.17275457_17275459dup, NC_000001.11:g.17275456_17275459dup, NC_000001.11:g.17275455_17275459dup, NC_000001.11:g.17275454_17275459dup, NC_000001.11:g.17275452_17275459dup, NC_000001.11:g.17275450_17275459dup, NC_000001.11:g.17275449_17275459dup, NC_000001.11:g.17275448_17275459dup, NC_000001.11:g.17275447_17275459dup, NC_000001.11:g.17275445_17275459dup, NC_000001.11:g.17275444_17275459dup, NC_000001.11:g.17275443_17275459dup, NC_000001.11:g.17275441_17275459dup, NC_000001.10:g.17601941_17601954del, NC_000001.10:g.17601942_17601954del, NC_000001.10:g.17601943_17601954del, NC_000001.10:g.17601944_17601954del, NC_000001.10:g.17601945_17601954del, NC_000001.10:g.17601946_17601954del, NC_000001.10:g.17601947_17601954del, NC_000001.10:g.17601948_17601954del, NC_000001.10:g.17601949_17601954del, NC_000001.10:g.17601950_17601954del, NC_000001.10:g.17601951_17601954del, NC_000001.10:g.17601952_17601954del, NC_000001.10:g.17601953_17601954del, NC_000001.10:g.17601954del, NC_000001.10:g.17601954dup, NC_000001.10:g.17601953_17601954dup, NC_000001.10:g.17601952_17601954dup, NC_000001.10:g.17601951_17601954dup, NC_000001.10:g.17601950_17601954dup, NC_000001.10:g.17601949_17601954dup, NC_000001.10:g.17601947_17601954dup, NC_000001.10:g.17601945_17601954dup, NC_000001.10:g.17601944_17601954dup, NC_000001.10:g.17601943_17601954dup, NC_000001.10:g.17601942_17601954dup, NC_000001.10:g.17601940_17601954dup, NC_000001.10:g.17601939_17601954dup, NC_000001.10:g.17601938_17601954dup, NC_000001.10:g.17601936_17601954dup, NG_052788.1:g.31368_31381del, NG_052788.1:g.31369_31381del, NG_052788.1:g.31370_31381del, NG_052788.1:g.31371_31381del, NG_052788.1:g.31372_31381del, NG_052788.1:g.31373_31381del, NG_052788.1:g.31374_31381del, NG_052788.1:g.31375_31381del, NG_052788.1:g.31376_31381del, NG_052788.1:g.31377_31381del, NG_052788.1:g.31378_31381del, NG_052788.1:g.31379_31381del, NG_052788.1:g.31380_31381del, NG_052788.1:g.31381del, NG_052788.1:g.31381dup, NG_052788.1:g.31380_31381dup, NG_052788.1:g.31379_31381dup, NG_052788.1:g.31378_31381dup, NG_052788.1:g.31377_31381dup, NG_052788.1:g.31376_31381dup, NG_052788.1:g.31374_31381dup, NG_052788.1:g.31372_31381dup, NG_052788.1:g.31371_31381dup, NG_052788.1:g.31370_31381dup, NG_052788.1:g.31369_31381dup, NG_052788.1:g.31367_31381dup, NG_052788.1:g.31366_31381dup, NG_052788.1:g.31365_31381dup, NG_052788.1:g.31363_31381dup, NW_011332688.1:g.117960_117973del, NW_011332688.1:g.117961_117973del, NW_011332688.1:g.117962_117973del, NW_011332688.1:g.117963_117973del, NW_011332688.1:g.117964_117973del, NW_011332688.1:g.117965_117973del, NW_011332688.1:g.117966_117973del, NW_011332688.1:g.117967_117973del, NW_011332688.1:g.117968_117973del, NW_011332688.1:g.117969_117973del, NW_011332688.1:g.117970_117973del, NW_011332688.1:g.117971_117973del, NW_011332688.1:g.117972_117973del, NW_011332688.1:g.117973del, NW_011332688.1:g.117973dup, NW_011332688.1:g.117972_117973dup, NW_011332688.1:g.117971_117973dup, NW_011332688.1:g.117970_117973dup, NW_011332688.1:g.117969_117973dup, NW_011332688.1:g.117968_117973dup, NW_011332688.1:g.117966_117973dup, NW_011332688.1:g.117964_117973dup, NW_011332688.1:g.117963_117973dup, NW_011332688.1:g.117962_117973dup, NW_011332688.1:g.117961_117973dup, NW_011332688.1:g.117959_117973dup, NW_011332688.1:g.117958_117973dup, NW_011332688.1:g.117957_117973dup, NW_011332688.1:g.117955_117973dup

Select item 14910509419.

rs1491050941 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:17252417 (GRCh38)
1:17578912 (GRCh37)
Canonical SPDI:: NC_000001.11:17252415:TGT:T
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.17252417_17252418del, NC_000001.10:g.17578912_17578913del, NG_052788.1:g.8339_8340del, NW_011332688.1:g.94931_94932del

Select item 149102567110.

rs1491025671 has merged into rs1338360878 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 1:17271868 (GRCh38)
1:17598363 (GRCh37)
Canonical SPDI:: NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:17271854:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.17271856GA[6], NC_000001.11:g.17271856GA[7], NC_000001.11:g.17271856GA[8], NC_000001.11:g.17271856GA[10], NC_000001.11:g.17271856GA[11], NC_000001.11:g.17271856GA[12], NC_000001.10:g.17598351GA[6], NC_000001.10:g.17598351GA[7], NC_000001.10:g.17598351GA[8], NC_000001.10:g.17598351GA[10], NC_000001.10:g.17598351GA[11], NC_000001.10:g.17598351GA[12], NG_052788.1:g.27778GA[6], NG_052788.1:g.27778GA[7], NG_052788.1:g.27778GA[8], NG_052788.1:g.27778GA[10], NG_052788.1:g.27778GA[11], NG_052788.1:g.27778GA[12], NW_011332688.1:g.114370GA[6], NW_011332688.1:g.114370GA[7], NW_011332688.1:g.114370GA[8], NW_011332688.1:g.114370GA[10], NW_011332688.1:g.114370GA[11], NW_011332688.1:g.114370GA[12]

Select item 149085630611.

rs1490856306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:17271588 (GRCh38)
1:17598083 (GRCh37)
Canonical SPDI:: NC_000001.11:17271587:C:G
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17271588C>G, NC_000001.10:g.17598083C>G, NG_052788.1:g.27510C>G, NW_011332688.1:g.114102C>G

Select item 149066442412.

rs1490664424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17249132 (GRCh38)
1:17575627 (GRCh37)
Canonical SPDI:: NC_000001.11:17249131:A:G
Gene:: PADI3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17249132A>G, NC_000001.10:g.17575627A>G, NG_052788.1:g.5054A>G, NM_016233.2:c.-6A>G, NW_011332688.1:g.91646A>G, XM_011541572.3:c.-6A>G, XM_011541572.2:c.-6A>G, XM_011541572.1:c.-6A>G

Select item 149063630113.

rs1490636301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17264250 (GRCh38)
1:17590745 (GRCh37)
Canonical SPDI:: NC_000001.11:17264249:C:T
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.17264250C>T, NC_000001.10:g.17590745C>T, NG_052788.1:g.20172C>T, NW_011332688.1:g.106764C>T

Select item 149060575014.

rs1490605750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:17265107 (GRCh38)
1:17591602 (GRCh37)
Canonical SPDI:: NC_000001.11:17265106:C:G
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17265107C>G, NC_000001.10:g.17591602C>G, NG_052788.1:g.21029C>G, NW_011332688.1:g.107621C>G

Select item 149050065515.

rs1490500655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17274163 (GRCh38)
1:17600658 (GRCh37)
Canonical SPDI:: NC_000001.11:17274162:C:T
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.17274163C>T, NC_000001.10:g.17600658C>T, NG_052788.1:g.30085C>T, NW_011332688.1:g.116677C>T

Select item 149044417716.

rs1490444177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17271866 (GRCh38)
1:17598361 (GRCh37)
Canonical SPDI:: NC_000001.11:17271865:G:A
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.17271866G>A, NC_000001.10:g.17598361G>A, NG_052788.1:g.27788G>A, NW_011332688.1:g.114380G>A

Select item 149036671617.

rs1490366716 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 1:17271854 (GRCh38)
1:17598349 (GRCh37)
Canonical SPDI:: NC_000001.11:17271852:AAAGA:A
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00059/7 (ALFA)
-=0.000762/102 (GnomAD)
HGVS:: NC_000001.11:g.17271854_17271857del, NC_000001.10:g.17598349_17598352del, NG_052788.1:g.27776_27779del, NW_011332688.1:g.114368_114371del

Select item 149033198218.

rs1490331982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17272760 (GRCh38)
1:17599255 (GRCh37)
Canonical SPDI:: NC_000001.11:17272759:A:G
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000083/22 (TOPMED)
HGVS:: NC_000001.11:g.17272760A>G, NC_000001.10:g.17599255A>G, NG_052788.1:g.28682A>G, NW_011332688.1:g.115274A>G

Select item 149018017519.

rs1490180175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:17276138 (GRCh38)
1:17602633 (GRCh37)
Canonical SPDI:: NC_000001.11:17276137:C:A
Gene:: PADI3 (Varview), MIR3972 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17276138C>A, NC_000001.10:g.17602633C>A, NG_052788.1:g.32060C>A, NW_011332688.1:g.118652C>A

Select item 149016751620.

rs1490167516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17249592 (GRCh38)
1:17576087 (GRCh37)
Canonical SPDI:: NC_000001.11:17249591:C:T
Gene:: PADI3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.17249592C>T, NC_000001.10:g.17576087C>T, NG_052788.1:g.5514C>T, NW_011332688.1:g.92106C>T

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