SNP Links for Gene (Select 9) - SNP

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Select item 14915422101.

rs1491542210 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:18193455 (GRCh38)
8:18050964 (GRCh37)
Canonical SPDI:: NC_000008.11:18193454:TA:
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002035/33 (ALFA)
-=0.001755/200 (GnomAD)
-=0.003401/2 (NorthernSweden)
HGVS:: NC_000008.11:g.18193455_18193456del, NC_000008.10:g.18050964_18050965del, NG_012245.2:g.27994_27995del

Select item 14915322772.

rs1491532277 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC,TTC,TTTC,TTTG [Show Flanks]
Chromosome:: 8:18193654 (GRCh38)
8:18051164 (GRCh37)
Canonical SPDI:: NC_000008.11:18193654::TC,NC_000008.11:18193654::TTC,NC_000008.11:18193654::TTTC,NC_000008.11:18193654::TTTG
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.00012/2 (ALFA)
HGVS:: NC_000008.11:g.18193654_18193655insTC, NC_000008.11:g.18193654_18193655insTTC, NC_000008.11:g.18193654_18193655insTTTC, NC_000008.11:g.18193654_18193655insTTTG, NC_000008.10:g.18051163_18051164insTC, NC_000008.10:g.18051163_18051164insTTC, NC_000008.10:g.18051163_18051164insTTTC, NC_000008.10:g.18051163_18051164insTTTG, NG_012245.2:g.28193_28194insTC, NG_012245.2:g.28193_28194insTTC, NG_012245.2:g.28193_28194insTTTC, NG_012245.2:g.28193_28194insTTTG

Select item 14915224453.

rs1491522445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATAATCTGATATATATATATATAATATATATAT [Show Flanks]
Chromosome:: 8:18193469 (GRCh38)
8:18050979 (GRCh37)
Canonical SPDI:: NC_000008.11:18193469:ATATATATATGTATATAATCTGATATATATATATATAATATATATAT:ATATATATATGTATATAATCTGATATATATATATATAATATATATATGTATATAATCTGATATATATATATATAATATATATAT
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: ATATATATATGTATATAATCTGATATATATATATATA=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.18193480_18193516dup, NC_000008.10:g.18050989_18051025dup, NG_012245.2:g.28019_28055dup

Select item 14914905854.

rs1491490585 has merged into rs1364077230 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 8:18193478 (GRCh38)
8:18050987 (GRCh37)
Canonical SPDI:: NC_000008.11:18193468:TATATATATAT:TATATATAT,NC_000008.11:18193468:TATATATATAT:TATATATATATAT
Gene:: NAT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0.000429/7 (ALFA)
-=0.000004/1 (TOPMED)
TA=0.000091/12 (GnomAD)
HGVS:: NC_000008.11:g.18193470AT[4], NC_000008.11:g.18193470AT[6], NC_000008.10:g.18050979AT[4], NC_000008.10:g.18050979AT[6], NG_012245.2:g.28009AT[4], NG_012245.2:g.28009AT[6]

Select item 14914209665.

rs1491420966 [Homo sapiens]

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

Select item 14914169526.

rs1491416952 has merged into rs55636901 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:18189005 (GRCh38)
8:18046514 (GRCh37)
Canonical SPDI:: NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18188994:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000008.11:g.18189005_18189012del, NC_000008.11:g.18189006_18189012del, NC_000008.11:g.18189007_18189012del, NC_000008.11:g.18189008_18189012del, NC_000008.11:g.18189009_18189012del, NC_000008.11:g.18189010_18189012del, NC_000008.11:g.18189011_18189012del, NC_000008.11:g.18189012del, NC_000008.11:g.18189012dup, NC_000008.11:g.18189011_18189012dup, NC_000008.11:g.18189010_18189012dup, NC_000008.11:g.18189009_18189012dup, NC_000008.11:g.18189008_18189012dup, NC_000008.11:g.18189007_18189012dup, NC_000008.11:g.18189006_18189012dup, NC_000008.11:g.18189005_18189012dup, NC_000008.11:g.18189004_18189012dup, NC_000008.11:g.18189003_18189012dup, NC_000008.11:g.18189002_18189012dup, NC_000008.11:g.18189001_18189012dup, NC_000008.11:g.18189000_18189012dup, NC_000008.11:g.18188999_18189012dup, NC_000008.11:g.18188998_18189012dup, NC_000008.11:g.18188997_18189012dup, NC_000008.11:g.18188996_18189012dup, NC_000008.11:g.18188995_18189012dup, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18189012_18189013insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.18188995_18189012A[31]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.18046514_18046521del, NC_000008.10:g.18046515_18046521del, NC_000008.10:g.18046516_18046521del, NC_000008.10:g.18046517_18046521del, NC_000008.10:g.18046518_18046521del, NC_000008.10:g.18046519_18046521del, NC_000008.10:g.18046520_18046521del, NC_000008.10:g.18046521del, NC_000008.10:g.18046521dup, NC_000008.10:g.18046520_18046521dup, NC_000008.10:g.18046519_18046521dup, NC_000008.10:g.18046518_18046521dup, NC_000008.10:g.18046517_18046521dup, NC_000008.10:g.18046516_18046521dup, NC_000008.10:g.18046515_18046521dup, NC_000008.10:g.18046514_18046521dup, NC_000008.10:g.18046513_18046521dup, NC_000008.10:g.18046512_18046521dup, NC_000008.10:g.18046511_18046521dup, NC_000008.10:g.18046510_18046521dup, NC_000008.10:g.18046509_18046521dup, NC_000008.10:g.18046508_18046521dup, NC_000008.10:g.18046507_18046521dup, NC_000008.10:g.18046506_18046521dup, NC_000008.10:g.18046505_18046521dup, NC_000008.10:g.18046504_18046521dup, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046521_18046522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.18046504_18046521A[31]GAAAAAAAAAAAAAAAAAAAAA[1], NG_012245.2:g.23544_23551del, NG_012245.2:g.23545_23551del, NG_012245.2:g.23546_23551del, NG_012245.2:g.23547_23551del, NG_012245.2:g.23548_23551del, NG_012245.2:g.23549_23551del, NG_012245.2:g.23550_23551del, NG_012245.2:g.23551del, NG_012245.2:g.23551dup, NG_012245.2:g.23550_23551dup, NG_012245.2:g.23549_23551dup, NG_012245.2:g.23548_23551dup, NG_012245.2:g.23547_23551dup, NG_012245.2:g.23546_23551dup, NG_012245.2:g.23545_23551dup, NG_012245.2:g.23544_23551dup, NG_012245.2:g.23543_23551dup, NG_012245.2:g.23542_23551dup, NG_012245.2:g.23541_23551dup, NG_012245.2:g.23540_23551dup, NG_012245.2:g.23539_23551dup, NG_012245.2:g.23538_23551dup, NG_012245.2:g.23537_23551dup, NG_012245.2:g.23536_23551dup, NG_012245.2:g.23535_23551dup, NG_012245.2:g.23534_23551dup, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23551_23552insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012245.2:g.23534_23551A[31]GAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913947427.

rs1491394742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:18204163 (GRCh38)
8:18061672 (GRCh37)
Canonical SPDI:: NC_000008.11:18204161:TTT:T
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.18204163_18204164del, NC_000008.10:g.18061672_18061673del, NG_012245.2:g.38702_38703del

Select item 14913555638.

rs1491355563 has merged into rs71217305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 8:18193465 (GRCh38)
8:18050974 (GRCh37)
Canonical SPDI:: NC_000008.11:18193455:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:18193455:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:18193455:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.0063/26 (1000Genomes)
-=0.2074/769 (TWINSUK)
-=0.2164/834 (ALSPAC)
-=0.3158/12 (GENOME_DK)
HGVS:: NC_000008.11:g.18193465_18193466del, NC_000008.11:g.18193466del, NC_000008.11:g.18193466dup, NC_000008.10:g.18050974_18050975del, NC_000008.10:g.18050975del, NC_000008.10:g.18050975dup, NG_012245.2:g.28004_28005del, NG_012245.2:g.28005del, NG_012245.2:g.28005dup

Select item 14912525249.

rs1491252524 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:18193654 (GRCh38)
8:18051163 (GRCh37)
Canonical SPDI:: NC_000008.11:18193653:TC:
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000008.11:g.18193654_18193655del, NC_000008.10:g.18051163_18051164del, NG_012245.2:g.28193_28194del

Select item 149117017310.

rs1491170173 has merged into rs1184499345 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 8:18168873 (GRCh38)
8:18026382 (GRCh37)
Canonical SPDI:: NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:18168861:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NAT1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.03/14 (NorthernSweden)
HGVS:: NC_000008.11:g.18168873_18168881del, NC_000008.11:g.18168876_18168881del, NC_000008.11:g.18168877_18168881del, NC_000008.11:g.18168878_18168881del, NC_000008.11:g.18168879_18168881del, NC_000008.11:g.18168880_18168881del, NC_000008.11:g.18168881del, NC_000008.11:g.18168881dup, NC_000008.11:g.18168880_18168881dup, NC_000008.10:g.18026382_18026390del, NC_000008.10:g.18026385_18026390del, NC_000008.10:g.18026386_18026390del, NC_000008.10:g.18026387_18026390del, NC_000008.10:g.18026388_18026390del, NC_000008.10:g.18026389_18026390del, NC_000008.10:g.18026390del, NC_000008.10:g.18026390dup, NC_000008.10:g.18026389_18026390dup, NG_012245.2:g.3412_3420del, NG_012245.2:g.3415_3420del, NG_012245.2:g.3416_3420del, NG_012245.2:g.3417_3420del, NG_012245.2:g.3418_3420del, NG_012245.2:g.3419_3420del, NG_012245.2:g.3420del, NG_012245.2:g.3420dup, NG_012245.2:g.3419_3420dup

Select item 149112402411.

rs1491124024 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:18188994 (GRCh38)
8:18046503 (GRCh37)
Canonical SPDI:: NC_000008.11:18188993:CA:
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00379/45 (ALFA)
HGVS:: NC_000008.11:g.18188994_18188995del, NC_000008.10:g.18046503_18046504del, NG_012245.2:g.23533_23534del

Select item 149111433612.

rs1491114336 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:18176598 (GRCh38)
8:18034107 (GRCh37)
Canonical SPDI:: NC_000008.11:18176596:TGT:T
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.18176598_18176599del, NC_000008.10:g.18034107_18034108del, NG_012245.2:g.11137_11138del

Select item 149096417413.

rs1490964174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:18205937 (GRCh38)
8:18063446 (GRCh37)
Canonical SPDI:: NC_000008.11:18205936:T:C
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.18205937T>C, NC_000008.10:g.18063446T>C, NG_012245.2:g.40476T>C

Select item 149096000814.

rs1490960008 [Homo sapiens]

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

Select item 149093895015.

rs1490938950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:18204353 (GRCh38)
8:18061862 (GRCh37)
Canonical SPDI:: NC_000008.11:18204352:C:A
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.18204353C>A, NC_000008.10:g.18061862C>A, NG_012245.2:g.38892C>A

Select item 149089544416.

rs1490895444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:18178539 (GRCh38)
8:18036048 (GRCh37)
Canonical SPDI:: NC_000008.11:18178538:C:T
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.18178539C>T, NC_000008.10:g.18036048C>T, NG_012245.2:g.13078C>T

Select item 149089543517.

rs1490895435 has merged into rs3038965 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 8:18173159 (GRCh38)
8:18030668 (GRCh37)
Canonical SPDI:: NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:18173146:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: NAT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.18173147CA[6], NC_000008.11:g.18173147CA[9], NC_000008.11:g.18173147CA[10], NC_000008.11:g.18173147CA[11], NC_000008.11:g.18173147CA[12], NC_000008.11:g.18173147CA[13], NC_000008.11:g.18173147CA[14], NC_000008.11:g.18173147CA[15], NC_000008.11:g.18173147CA[17], NC_000008.11:g.18173147CA[18], NC_000008.11:g.18173147CA[19], NC_000008.11:g.18173147CA[20], NC_000008.11:g.18173147CA[21], NC_000008.11:g.18173147CA[22], NC_000008.11:g.18173147CA[23], NC_000008.11:g.18173147CA[24], NC_000008.11:g.18173147CA[25], NC_000008.11:g.18173147CA[26], NC_000008.10:g.18030656CA[6], NC_000008.10:g.18030656CA[9], NC_000008.10:g.18030656CA[10], NC_000008.10:g.18030656CA[11], NC_000008.10:g.18030656CA[12], NC_000008.10:g.18030656CA[13], NC_000008.10:g.18030656CA[14], NC_000008.10:g.18030656CA[15], NC_000008.10:g.18030656CA[17], NC_000008.10:g.18030656CA[18], NC_000008.10:g.18030656CA[19], NC_000008.10:g.18030656CA[20], NC_000008.10:g.18030656CA[21], NC_000008.10:g.18030656CA[22], NC_000008.10:g.18030656CA[23], NC_000008.10:g.18030656CA[24], NC_000008.10:g.18030656CA[25], NC_000008.10:g.18030656CA[26], NG_012245.2:g.7686CA[6], NG_012245.2:g.7686CA[9], NG_012245.2:g.7686CA[10], NG_012245.2:g.7686CA[11], NG_012245.2:g.7686CA[12], NG_012245.2:g.7686CA[13], NG_012245.2:g.7686CA[14], NG_012245.2:g.7686CA[15], NG_012245.2:g.7686CA[17], NG_012245.2:g.7686CA[18], NG_012245.2:g.7686CA[19], NG_012245.2:g.7686CA[20], NG_012245.2:g.7686CA[21], NG_012245.2:g.7686CA[22], NG_012245.2:g.7686CA[23], NG_012245.2:g.7686CA[24], NG_012245.2:g.7686CA[25], NG_012245.2:g.7686CA[26]

Select item 149084542218.

rs1490845422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:18213176 (GRCh38)
8:18070685 (GRCh37)
Canonical SPDI:: NC_000008.11:18213175:C:T
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000071/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000008.11:g.18213176C>T, NC_000008.10:g.18070685C>T, NG_012245.2:g.47715C>T

Select item 149080249019.

rs1490802490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:18201185 (GRCh38)
8:18058694 (GRCh37)
Canonical SPDI:: NC_000008.11:18201184:A:G
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.18201185A>G, NC_000008.10:g.18058694A>G, NG_012245.2:g.35724A>G, NG_046529.1:g.121T>C

Select item 149078044320.

rs1490780443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:18190885 (GRCh38)
8:18048394 (GRCh37)
Canonical SPDI:: NC_000008.11:18190884:A:G
Gene:: NAT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.18190885A>G, NC_000008.10:g.18048394A>G, NG_012245.2:g.25424A>G

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