SNP Links for Gene (Select 5229) - SNP

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Select item 14915646271.

rs1491564627 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:115206664 (GRCh38)
5:114542361 (GRCh37)
Canonical SPDI:: NC_000005.10:115206660:TGTGT:TGT
Gene:: PGGT1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000005.10:g.115206662GT[1], NC_000005.9:g.114542359GT[1], NM_005023.4:c.*5738CA[1], XM_005272020.4:c.*5614CA[1], XM_005272020.3:c.*5614CA[1], XM_005272020.2:c.*5614CA[1]

Select item 14915521442.

rs1491552144 has merged into rs11345719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 5:115218506 (GRCh38)
5:114554203 (GRCh37)
Canonical SPDI:: NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115218491:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGGT1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1157/446 (ALSPAC)
A=0.4273/2140 (1000Genomes)
-=0.4474/17 (GENOME_DK)
HGVS:: NC_000005.10:g.115218506_115218509del, NC_000005.10:g.115218507_115218509del, NC_000005.10:g.115218508_115218509del, NC_000005.10:g.115218509del, NC_000005.10:g.115218509dup, NC_000005.10:g.115218508_115218509dup, NC_000005.10:g.115218507_115218509dup, NC_000005.10:g.115218503_115218509dup, NC_000005.9:g.114554203_114554206del, NC_000005.9:g.114554204_114554206del, NC_000005.9:g.114554205_114554206del, NC_000005.9:g.114554206del, NC_000005.9:g.114554206dup, NC_000005.9:g.114554205_114554206dup, NC_000005.9:g.114554204_114554206dup, NC_000005.9:g.114554200_114554206dup

Select item 14915094733.

rs1491509473 has merged into rs1169870044 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAACTATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:115257539 (GRCh38)
5:114593236 (GRCh37)
Canonical SPDI:: NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115257530:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.115257539_115257551del, NC_000005.10:g.115257540_115257551del, NC_000005.10:g.115257541_115257551del, NC_000005.10:g.115257542_115257551del, NC_000005.10:g.115257543_115257551del, NC_000005.10:g.115257544_115257551del, NC_000005.10:g.115257545_115257551del, NC_000005.10:g.115257548_115257551del, NC_000005.10:g.115257549_115257551del, NC_000005.10:g.115257550_115257551del, NC_000005.10:g.115257551del, NC_000005.10:g.115257551dup, NC_000005.10:g.115257550_115257551dup, NC_000005.10:g.115257549_115257551dup, NC_000005.10:g.115257548_115257551dup, NC_000005.10:g.115257547_115257551dup, NC_000005.10:g.115257546_115257551dup, NC_000005.10:g.115257545_115257551dup, NC_000005.10:g.115257544_115257551dup, NC_000005.10:g.115257543_115257551dup, NC_000005.10:g.115257542_115257551dup, NC_000005.10:g.115257541_115257551dup, NC_000005.10:g.115257540_115257551dup, NC_000005.10:g.115257539_115257551dup, NC_000005.10:g.115257537_115257551dup, NC_000005.10:g.115257532_115257551dup, NC_000005.10:g.115257531_115257551dup, NC_000005.10:g.115257551_115257552insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.115257531_115257551A[35]CTATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.114593236_114593248del, NC_000005.9:g.114593237_114593248del, NC_000005.9:g.114593238_114593248del, NC_000005.9:g.114593239_114593248del, NC_000005.9:g.114593240_114593248del, NC_000005.9:g.114593241_114593248del, NC_000005.9:g.114593242_114593248del, NC_000005.9:g.114593245_114593248del, NC_000005.9:g.114593246_114593248del, NC_000005.9:g.114593247_114593248del, NC_000005.9:g.114593248del, NC_000005.9:g.114593248dup, NC_000005.9:g.114593247_114593248dup, NC_000005.9:g.114593246_114593248dup, NC_000005.9:g.114593245_114593248dup, NC_000005.9:g.114593244_114593248dup, NC_000005.9:g.114593243_114593248dup, NC_000005.9:g.114593242_114593248dup, NC_000005.9:g.114593241_114593248dup, NC_000005.9:g.114593240_114593248dup, NC_000005.9:g.114593239_114593248dup, NC_000005.9:g.114593238_114593248dup, NC_000005.9:g.114593237_114593248dup, NC_000005.9:g.114593236_114593248dup, NC_000005.9:g.114593234_114593248dup, NC_000005.9:g.114593229_114593248dup, NC_000005.9:g.114593228_114593248dup, NC_000005.9:g.114593248_114593249insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.114593228_114593248A[35]CTATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913993254.

rs1491399325 has merged into rs34207751 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:115211607 (GRCh38)
5:114547304 (GRCh37)
Canonical SPDI:: NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115211598:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGGT1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.115211607_115211621del, NC_000005.10:g.115211609_115211621del, NC_000005.10:g.115211611_115211621del, NC_000005.10:g.115211612_115211621del, NC_000005.10:g.115211614_115211621del, NC_000005.10:g.115211615_115211621del, NC_000005.10:g.115211616_115211621del, NC_000005.10:g.115211617_115211621del, NC_000005.10:g.115211618_115211621del, NC_000005.10:g.115211619_115211621del, NC_000005.10:g.115211620_115211621del, NC_000005.10:g.115211621del, NC_000005.10:g.115211621dup, NC_000005.10:g.115211620_115211621dup, NC_000005.10:g.115211619_115211621dup, NC_000005.10:g.115211618_115211621dup, NC_000005.10:g.115211617_115211621dup, NC_000005.10:g.115211616_115211621dup, NC_000005.10:g.115211615_115211621dup, NC_000005.10:g.115211614_115211621dup, NC_000005.10:g.115211613_115211621dup, NC_000005.10:g.115211612_115211621dup, NC_000005.10:g.115211610_115211621dup, NC_000005.9:g.114547304_114547318del, NC_000005.9:g.114547306_114547318del, NC_000005.9:g.114547308_114547318del, NC_000005.9:g.114547309_114547318del, NC_000005.9:g.114547311_114547318del, NC_000005.9:g.114547312_114547318del, NC_000005.9:g.114547313_114547318del, NC_000005.9:g.114547314_114547318del, NC_000005.9:g.114547315_114547318del, NC_000005.9:g.114547316_114547318del, NC_000005.9:g.114547317_114547318del, NC_000005.9:g.114547318del, NC_000005.9:g.114547318dup, NC_000005.9:g.114547317_114547318dup, NC_000005.9:g.114547316_114547318dup, NC_000005.9:g.114547315_114547318dup, NC_000005.9:g.114547314_114547318dup, NC_000005.9:g.114547313_114547318dup, NC_000005.9:g.114547312_114547318dup, NC_000005.9:g.114547311_114547318dup, NC_000005.9:g.114547310_114547318dup, NC_000005.9:g.114547309_114547318dup, NC_000005.9:g.114547307_114547318dup, NM_005023.4:c.*789_*803del, NM_005023.4:c.*791_*803del, NM_005023.4:c.*793_*803del, NM_005023.4:c.*794_*803del, NM_005023.4:c.*796_*803del, NM_005023.4:c.*797_*803del, NM_005023.4:c.*798_*803del, NM_005023.4:c.*799_*803del, NM_005023.4:c.*800_*803del, NM_005023.4:c.*801_*803del, NM_005023.4:c.*802_*803del, NM_005023.4:c.*803del, NM_005023.4:c.*803dup, NM_005023.4:c.*802_*803dup, NM_005023.4:c.*801_*803dup, NM_005023.4:c.*800_*803dup, NM_005023.4:c.*799_*803dup, NM_005023.4:c.*798_*803dup, NM_005023.4:c.*797_*803dup, NM_005023.4:c.*796_*803dup, NM_005023.4:c.*795_*803dup, NM_005023.4:c.*794_*803dup, NM_005023.4:c.*792_*803dup, NM_005023.3:c.*789_*803del, NM_005023.3:c.*791_*803del, NM_005023.3:c.*793_*803del, NM_005023.3:c.*794_*803del, NM_005023.3:c.*796_*803del, NM_005023.3:c.*797_*803del, NM_005023.3:c.*798_*803del, NM_005023.3:c.*799_*803del, NM_005023.3:c.*800_*803del, NM_005023.3:c.*801_*803del, NM_005023.3:c.*802_*803del, NM_005023.3:c.*803del, NM_005023.3:c.*803dup, NM_005023.3:c.*802_*803dup, NM_005023.3:c.*801_*803dup, NM_005023.3:c.*800_*803dup, NM_005023.3:c.*799_*803dup, NM_005023.3:c.*798_*803dup, NM_005023.3:c.*797_*803dup, NM_005023.3:c.*796_*803dup, NM_005023.3:c.*795_*803dup, NM_005023.3:c.*794_*803dup, NM_005023.3:c.*792_*803dup, XM_005272020.4:c.*665_*679del, XM_005272020.4:c.*667_*679del, XM_005272020.4:c.*669_*679del, XM_005272020.4:c.*670_*679del, XM_005272020.4:c.*672_*679del, XM_005272020.4:c.*673_*679del, XM_005272020.4:c.*674_*679del, XM_005272020.4:c.*675_*679del, XM_005272020.4:c.*676_*679del, XM_005272020.4:c.*677_*679del, XM_005272020.4:c.*678_*679del, XM_005272020.4:c.*679del, XM_005272020.4:c.*679dup, XM_005272020.4:c.*678_*679dup, XM_005272020.4:c.*677_*679dup, XM_005272020.4:c.*676_*679dup, XM_005272020.4:c.*675_*679dup, XM_005272020.4:c.*674_*679dup, XM_005272020.4:c.*673_*679dup, XM_005272020.4:c.*672_*679dup, XM_005272020.4:c.*671_*679dup, XM_005272020.4:c.*670_*679dup, XM_005272020.4:c.*668_*679dup, XM_005272020.3:c.*665_*679del, XM_005272020.3:c.*667_*679del, XM_005272020.3:c.*669_*679del, XM_005272020.3:c.*670_*679del, XM_005272020.3:c.*672_*679del, XM_005272020.3:c.*673_*679del, XM_005272020.3:c.*674_*679del, XM_005272020.3:c.*675_*679del, XM_005272020.3:c.*676_*679del, XM_005272020.3:c.*677_*679del, XM_005272020.3:c.*678_*679del, XM_005272020.3:c.*679del, XM_005272020.3:c.*679dup, XM_005272020.3:c.*678_*679dup, XM_005272020.3:c.*677_*679dup, XM_005272020.3:c.*676_*679dup, XM_005272020.3:c.*675_*679dup, XM_005272020.3:c.*674_*679dup, XM_005272020.3:c.*673_*679dup, XM_005272020.3:c.*672_*679dup, XM_005272020.3:c.*671_*679dup, XM_005272020.3:c.*670_*679dup, XM_005272020.3:c.*668_*679dup, XM_005272020.2:c.*665_*679del, XM_005272020.2:c.*667_*679del, XM_005272020.2:c.*669_*679del, XM_005272020.2:c.*670_*679del, XM_005272020.2:c.*672_*679del, XM_005272020.2:c.*673_*679del, XM_005272020.2:c.*674_*679del, XM_005272020.2:c.*675_*679del, XM_005272020.2:c.*676_*679del, XM_005272020.2:c.*677_*679del, XM_005272020.2:c.*678_*679del, XM_005272020.2:c.*679del, XM_005272020.2:c.*679dup, XM_005272020.2:c.*678_*679dup, XM_005272020.2:c.*677_*679dup, XM_005272020.2:c.*676_*679dup, XM_005272020.2:c.*675_*679dup, XM_005272020.2:c.*674_*679dup, XM_005272020.2:c.*673_*679dup, XM_005272020.2:c.*672_*679dup, XM_005272020.2:c.*671_*679dup, XM_005272020.2:c.*670_*679dup, XM_005272020.2:c.*668_*679dup, XM_005272020.1:c.*665_*679del, XM_005272020.1:c.*667_*679del, XM_005272020.1:c.*669_*679del, XM_005272020.1:c.*670_*679del, XM_005272020.1:c.*672_*679del, XM_005272020.1:c.*673_*679del, XM_005272020.1:c.*674_*679del, XM_005272020.1:c.*675_*679del, XM_005272020.1:c.*676_*679del, XM_005272020.1:c.*677_*679del, XM_005272020.1:c.*678_*679del, XM_005272020.1:c.*679del, XM_005272020.1:c.*679dup, XM_005272020.1:c.*678_*679dup, XM_005272020.1:c.*677_*679dup, XM_005272020.1:c.*676_*679dup, XM_005272020.1:c.*675_*679dup, XM_005272020.1:c.*674_*679dup, XM_005272020.1:c.*673_*679dup, XM_005272020.1:c.*672_*679dup, XM_005272020.1:c.*671_*679dup, XM_005272020.1:c.*670_*679dup, XM_005272020.1:c.*668_*679dup

Select item 14912719375.

rs1491271937 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:115218491 (GRCh38)
5:114554188 (GRCh37)
Canonical SPDI:: NC_000005.10:115218490:CA:
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.115218491_115218492del, NC_000005.9:g.114554188_114554189del

Select item 14912530246.

rs1491253024 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:115211598 (GRCh38)
5:114547295 (GRCh37)
Canonical SPDI:: NC_000005.10:115211597:CA:
Gene:: PGGT1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000005.10:g.115211598_115211599del, NC_000005.9:g.114547295_114547296del, NM_005023.4:c.*803_*804del, NM_005023.3:c.*803_*804del, XM_005272020.4:c.*679_*680del, XM_005272020.3:c.*679_*680del, XM_005272020.2:c.*679_*680del, XM_005272020.1:c.*679_*680del

Select item 14911804967.

rs1491180496 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911138248.

rs1491113824 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GCAAATGAGGCACTGATTAATCAG
Chromosome:: no mapping
Canonical SPDI:

Select item 14910061729.

rs1491006172 has merged into rs60269384 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:115225662 (GRCh38)
5:114561359 (GRCh37)
Canonical SPDI:: NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:115225649:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000005.10:g.115225662_115225665del, NC_000005.10:g.115225663_115225665del, NC_000005.10:g.115225664_115225665del, NC_000005.10:g.115225665del, NC_000005.10:g.115225665dup, NC_000005.10:g.115225664_115225665dup, NC_000005.10:g.115225663_115225665dup, NC_000005.10:g.115225661_115225665dup, NC_000005.9:g.114561359_114561362del, NC_000005.9:g.114561360_114561362del, NC_000005.9:g.114561361_114561362del, NC_000005.9:g.114561362del, NC_000005.9:g.114561362dup, NC_000005.9:g.114561361_114561362dup, NC_000005.9:g.114561360_114561362dup, NC_000005.9:g.114561358_114561362dup

Select item 149099481210.

rs1490994812 has merged into rs57249147 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:115201385 (GRCh38)
5:114537082 (GRCh37)
Canonical SPDI:: NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:115201372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.115201373GT[6], NC_000005.10:g.115201373GT[8], NC_000005.10:g.115201373GT[9], NC_000005.10:g.115201373GT[10], NC_000005.10:g.115201373GT[11], NC_000005.10:g.115201373GT[12], NC_000005.10:g.115201373GT[13], NC_000005.10:g.115201373GT[14], NC_000005.10:g.115201373GT[15], NC_000005.10:g.115201373GT[16], NC_000005.10:g.115201373GT[17], NC_000005.10:g.115201373GT[18], NC_000005.10:g.115201373GT[19], NC_000005.10:g.115201373GT[21], NC_000005.10:g.115201373GT[22], NC_000005.10:g.115201373GT[23], NC_000005.10:g.115201373GT[24], NC_000005.10:g.115201373GT[25], NC_000005.10:g.115201373GT[26], NC_000005.10:g.115201373GT[27], NC_000005.10:g.115201373GT[28], NC_000005.10:g.115201373GT[29], NC_000005.10:g.115201373GT[31], NC_000005.9:g.114537070GT[6], NC_000005.9:g.114537070GT[8], NC_000005.9:g.114537070GT[9], NC_000005.9:g.114537070GT[10], NC_000005.9:g.114537070GT[11], NC_000005.9:g.114537070GT[12], NC_000005.9:g.114537070GT[13], NC_000005.9:g.114537070GT[14], NC_000005.9:g.114537070GT[15], NC_000005.9:g.114537070GT[16], NC_000005.9:g.114537070GT[17], NC_000005.9:g.114537070GT[18], NC_000005.9:g.114537070GT[19], NC_000005.9:g.114537070GT[21], NC_000005.9:g.114537070GT[22], NC_000005.9:g.114537070GT[23], NC_000005.9:g.114537070GT[24], NC_000005.9:g.114537070GT[25], NC_000005.9:g.114537070GT[26], NC_000005.9:g.114537070GT[27], NC_000005.9:g.114537070GT[28], NC_000005.9:g.114537070GT[29], NC_000005.9:g.114537070GT[31]

Select item 149092741311.

rs1490927413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:115252543 (GRCh38)
5:114588240 (GRCh37)
Canonical SPDI:: NC_000005.10:115252542:T:A,NC_000005.10:115252542:T:C
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.115252543T>A, NC_000005.10:g.115252543T>C, NC_000005.9:g.114588240T>A, NC_000005.9:g.114588240T>C

Select item 149091949012.

rs1490919490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115238026 (GRCh38)
5:114573723 (GRCh37)
Canonical SPDI:: NC_000005.10:115238025:T:C
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115238026T>C, NC_000005.9:g.114573723T>C

Select item 149086794413.

rs1490867944 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:115237011 (GRCh38)
5:114572708 (GRCh37)
Canonical SPDI:: NC_000005.10:115237006:AGAGAG:AGAG
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115237007AG[2], NC_000005.9:g.114572704AG[2]

Select item 149084104614.

rs1490841046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115258621 (GRCh38)
5:114594318 (GRCh37)
Canonical SPDI:: NC_000005.10:115258620:T:C
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.115258621T>C, NC_000005.9:g.114594318T>C

Select item 149083002915.

rs1490830029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:115244546 (GRCh38)
5:114580243 (GRCh37)
Canonical SPDI:: NC_000005.10:115244545:A:C
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115244546A>C, NC_000005.9:g.114580243A>C

Select item 149076034316.

rs1490760343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115230610 (GRCh38)
5:114566307 (GRCh37)
Canonical SPDI:: NC_000005.10:115230609:G:A
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.115230610G>A, NC_000005.9:g.114566307G>A

Select item 149072808417.

rs1490728084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:115242201 (GRCh38)
5:114577898 (GRCh37)
Canonical SPDI:: NC_000005.10:115242200:T:G
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000143/20 (GnomAD)
HGVS:: NC_000005.10:g.115242201T>G, NC_000005.9:g.114577898T>G

Select item 149072525618.

rs1490725256 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 5:115205719 (GRCh38)
5:114541416 (GRCh37)
Canonical SPDI:: NC_000005.10:115205716:ATCAT:AT
Gene:: PGGT1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115205719_115205721del, NC_000005.9:g.114541416_114541418del, NM_005023.4:c.*6683_*6685del, XM_005272020.4:c.*6559_*6561del, XM_005272020.3:c.*6559_*6561del, XM_005272020.2:c.*6559_*6561del

Select item 149070132019.

rs1490701320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:115239853 (GRCh38)
5:114575550 (GRCh37)
Canonical SPDI:: NC_000005.10:115239852:G:C
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.115239853G>C, NC_000005.9:g.114575550G>C

Select item 149069631720.

rs1490696317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:115214943 (GRCh38)
5:114550640 (GRCh37)
Canonical SPDI:: NC_000005.10:115214942:C:G
Gene:: PGGT1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115214943C>G, NC_000005.9:g.114550640C>G

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