Links from Gene
Items: 1 to 20 of 3923
1.
rs1491561311 has merged into rs1354151315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGGCGGGGGGGG,GGGG,GGGGCGGGGGGG,GGGGG,GGGGGCGGGGGG,GGGGGG,GGGGGGGCGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGG,GGGGTGGGGGG,GGGGTGGGGGGG,GGTTGGGGGGG
[Show Flanks]
- Chromosome:
- 19:40880798
(GRCh38)
19:41386703
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880796:GGG:G,NC_000019.10:40880796:GGG:GGGGCGGGGGGGG,NC_000019.10:40880796:GGG:GGGGG,NC_000019.10:40880796:GGG:GGGGGCGGGGGGG,NC_000019.10:40880796:GGG:GGGGGG,NC_000019.10:40880796:GGG:GGGGGGCGGGGGG,NC_000019.10:40880796:GGG:GGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGCGGGG,NC_000019.10:40880796:GGG:GGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGGGGGGGGGGGGGG,NC_000019.10:40880796:GGG:GGGGGGGGTGGGG,NC_000019.10:40880796:GGG:GGGGGTGGGGGG,NC_000019.10:40880796:GGG:GGGGGTGGGGGGG,NC_000019.10:40880796:GGG:GGGTTGGGGGGG
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGCGGGGGGGG=0./0
(
ALFA)
-=0.00507/5
(Korea1K)
- HGVS:
NC_000019.10:g.40880798_40880799del, NC_000019.10:g.40880797_40880799G[4]CGGGGGGGG[1], NC_000019.10:g.40880798_40880799dup, NC_000019.10:g.40880797_40880799G[5]CGGGGGGG[1], NC_000019.10:g.40880797_40880799dup, NC_000019.10:g.40880797_40880799G[6]CGGGGGG[1], NC_000019.10:g.40880799_40880800insGGGG, NC_000019.10:g.40880797_40880799G[8]CGGGG[1], NC_000019.10:g.40880799_40880800insGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGGGGGGG, NC_000019.10:g.40880799_40880800insGGGGGGGGGGGGGGGGGG, NC_000019.10:g.40880797_40880799G[8]TGGGG[1], NC_000019.10:g.40880797_40880799G[5]TGGGGGG[1], NC_000019.10:g.40880797_40880799G[5]TGGGGGGG[1], NC_000019.10:g.40880799_40880800insTTGGGGGGG, NC_000019.9:g.41386703_41386704del, NC_000019.9:g.41386702_41386704G[4]CGGGGGGGG[1], NC_000019.9:g.41386703_41386704dup, NC_000019.9:g.41386702_41386704G[5]CGGGGGGG[1], NC_000019.9:g.41386702_41386704dup, NC_000019.9:g.41386702_41386704G[6]CGGGGGG[1], NC_000019.9:g.41386704_41386705insGGGG, NC_000019.9:g.41386702_41386704G[8]CGGGG[1], NC_000019.9:g.41386704_41386705insGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGGGGGGG, NC_000019.9:g.41386704_41386705insGGGGGGGGGGGGGGGGGG, NC_000019.9:g.41386702_41386704G[8]TGGGG[1], NC_000019.9:g.41386702_41386704G[5]TGGGGGG[1], NC_000019.9:g.41386702_41386704G[5]TGGGGGGG[1], NC_000019.9:g.41386704_41386705insTTGGGGGGG, NG_007960.1:g.6955_6956del, NG_007960.1:g.6954_6956C[8]GCCCC[1], NG_007960.1:g.6955_6956dup, NG_007960.1:g.6954_6956C[7]GCCCCC[1], NG_007960.1:g.6954_6956dup, NG_007960.1:g.6954_6956C[6]GCCCCCC[1], NG_007960.1:g.6956_6957insCCCC, NG_007960.1:g.6954_6956C[4]GCCCCCCCC[1], NG_007960.1:g.6956_6957insCCCCCC, NG_007960.1:g.6956_6957insCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCCCCCCC, NG_007960.1:g.6956_6957insCCCCCCCCCCCCCCCCCC, NG_007960.1:g.6954_6956C[4]ACCCCCCCC[1], NG_007960.1:g.6954_6956C[6]ACCCCC[1], NG_007960.1:g.6954_6956C[7]ACCCCC[1], NG_007960.1:g.6954_6956C[7]AACCC[1]
2.
rs1491452291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTT
[Show Flanks]
- Chromosome:
- 19:40885954
(GRCh38)
19:41391860
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40885954:TTT:TTTGTTT
- Validated:
- by frequency,by alfa
- MAF:
TTTGTTT=0./0
(
ALFA)
TTTG=0.00013/1
(GnomAD)
- HGVS:
3.
rs1491317338 has merged into rs71334952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:40885961
(GRCh38)
19:41391866
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40885953:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.40885961_40885968del, NC_000019.10:g.40885963_40885968del, NC_000019.10:g.40885964_40885968del, NC_000019.10:g.40885965_40885968del, NC_000019.10:g.40885966_40885968del, NC_000019.10:g.40885967_40885968del, NC_000019.10:g.40885968del, NC_000019.10:g.40885968dup, NC_000019.10:g.40885967_40885968dup, NC_000019.10:g.40885966_40885968dup, NC_000019.10:g.40885965_40885968dup, NC_000019.10:g.40885964_40885968dup, NC_000019.10:g.40885963_40885968dup, NC_000019.10:g.40885962_40885968dup, NC_000019.10:g.40885961_40885968dup, NC_000019.10:g.40885960_40885968dup, NC_000019.10:g.40885954_40885968dup, NC_000019.10:g.40885968_40885969insTTTTTTTTTTTTTTTT, NC_000019.10:g.40885968_40885969insTTTTTTTTTTTTTTTTT, NC_000019.9:g.41391866_41391873del, NC_000019.9:g.41391868_41391873del, NC_000019.9:g.41391869_41391873del, NC_000019.9:g.41391870_41391873del, NC_000019.9:g.41391871_41391873del, NC_000019.9:g.41391872_41391873del, NC_000019.9:g.41391873del, NC_000019.9:g.41391873dup, NC_000019.9:g.41391872_41391873dup, NC_000019.9:g.41391871_41391873dup, NC_000019.9:g.41391870_41391873dup, NC_000019.9:g.41391869_41391873dup, NC_000019.9:g.41391868_41391873dup, NC_000019.9:g.41391867_41391873dup, NC_000019.9:g.41391866_41391873dup, NC_000019.9:g.41391865_41391873dup, NC_000019.9:g.41391859_41391873dup, NC_000019.9:g.41391873_41391874insTTTTTTTTTTTTTTTT, NC_000019.9:g.41391873_41391874insTTTTTTTTTTTTTTTTT, NG_007960.1:g.1792_1799del, NG_007960.1:g.1794_1799del, NG_007960.1:g.1795_1799del, NG_007960.1:g.1796_1799del, NG_007960.1:g.1797_1799del, NG_007960.1:g.1798_1799del, NG_007960.1:g.1799del, NG_007960.1:g.1799dup, NG_007960.1:g.1798_1799dup, NG_007960.1:g.1797_1799dup, NG_007960.1:g.1796_1799dup, NG_007960.1:g.1795_1799dup, NG_007960.1:g.1794_1799dup, NG_007960.1:g.1793_1799dup, NG_007960.1:g.1792_1799dup, NG_007960.1:g.1791_1799dup, NG_007960.1:g.1785_1799dup, NG_007960.1:g.1799_1800insAAAAAAAAAAAAAAAA, NG_007960.1:g.1799_1800insAAAAAAAAAAAAAAAAA
4.
rs1491259164 has merged into rs775059371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:40887513
(GRCh38)
19:41393418
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:40887503:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.40887513_40887522del, NC_000019.10:g.40887516_40887522del, NC_000019.10:g.40887517_40887522del, NC_000019.10:g.40887518_40887522del, NC_000019.10:g.40887520_40887522del, NC_000019.10:g.40887521_40887522del, NC_000019.10:g.40887522del, NC_000019.10:g.40887522dup, NC_000019.10:g.40887521_40887522dup, NC_000019.10:g.40887520_40887522dup, NC_000019.10:g.40887519_40887522dup, NC_000019.10:g.40887518_40887522dup, NC_000019.10:g.40887517_40887522dup, NC_000019.10:g.40887516_40887522dup, NC_000019.10:g.40887515_40887522dup, NC_000019.9:g.41393418_41393427del, NC_000019.9:g.41393421_41393427del, NC_000019.9:g.41393422_41393427del, NC_000019.9:g.41393423_41393427del, NC_000019.9:g.41393425_41393427del, NC_000019.9:g.41393426_41393427del, NC_000019.9:g.41393427del, NC_000019.9:g.41393427dup, NC_000019.9:g.41393426_41393427dup, NC_000019.9:g.41393425_41393427dup, NC_000019.9:g.41393424_41393427dup, NC_000019.9:g.41393423_41393427dup, NC_000019.9:g.41393422_41393427dup, NC_000019.9:g.41393421_41393427dup, NC_000019.9:g.41393420_41393427dup, NG_007960.1:g.240_249del, NG_007960.1:g.243_249del, NG_007960.1:g.244_249del, NG_007960.1:g.245_249del, NG_007960.1:g.247_249del, NG_007960.1:g.248_249del, NG_007960.1:g.249del, NG_007960.1:g.249dup, NG_007960.1:g.248_249dup, NG_007960.1:g.247_249dup, NG_007960.1:g.246_249dup, NG_007960.1:g.245_249dup, NG_007960.1:g.244_249dup, NG_007960.1:g.243_249dup, NG_007960.1:g.242_249dup
5.
rs1491239156 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AGCA,AGCAC
[Show Flanks]
- Chromosome:
- 19:40880797
(GRCh38)
19:41386703
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880797::A,NC_000019.10:40880797::AGCA,NC_000019.10:40880797::AGCAC
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGCA=0./0
(
ALFA)
A=0.00102/1
(Korea1K)
A=0.00181/41
(GnomAD)
A=0.03235/11
(NorthernSweden)
- HGVS:
6.
rs1491071594 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:40887522
(GRCh38)
19:41393427
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40887521:TG:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00059/7
(
ALFA)
-=0.000178/23
(GnomAD)
-=0.002268/38
(TOMMO)
- HGVS:
11.
rs1490324695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:40879538
(GRCh38)
19:41385443
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40879537:G:A,NC_000019.10:40879537:G:T
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490025811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:40884067
(GRCh38)
19:41389972
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40884066:T:C
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00011/2
(TOMMO)
- HGVS:
13.
rs1489863654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:40883316
(GRCh38)
19:41389221
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40883315:C:G,NC_000019.10:40883315:C:T
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
14.
rs1489742024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:40883170
(GRCh38)
19:41389075
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40883169:C:A
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489719748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:40882404
(GRCh38)
19:41388309
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40882403:A:G
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1489591829 has merged into rs1171374070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 19:40880817
(GRCh38)
19:41386722
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.40880799GA[9], NC_000019.10:g.40880799GA[10], NC_000019.10:g.40880799GA[11], NC_000019.10:g.40880799GA[12], NC_000019.10:g.40880799GA[13], NC_000019.10:g.40880799GA[14], NC_000019.10:g.40880799GA[15], NC_000019.10:g.40880799GA[16], NC_000019.10:g.40880799GA[17], NC_000019.10:g.40880799GA[18], NC_000019.10:g.40880799GA[19], NC_000019.10:g.40880799GA[20], NC_000019.10:g.40880799GA[21], NC_000019.10:g.40880799GA[22], NC_000019.10:g.40880799GA[23], NC_000019.10:g.40880799GA[24], NC_000019.10:g.40880799GA[25], NC_000019.10:g.40880799GA[26], NC_000019.10:g.40880799GA[27], NC_000019.10:g.40880799GA[28], NC_000019.10:g.40880799GA[29], NC_000019.10:g.40880799GA[30], NC_000019.10:g.40880799GA[31], NC_000019.10:g.40880799GA[33], NC_000019.10:g.40880799GA[34], NC_000019.10:g.40880799GA[35], NC_000019.10:g.40880799GA[37], NC_000019.10:g.40880799GA[38], NC_000019.10:g.40880799GA[39], NC_000019.9:g.41386704GA[9], NC_000019.9:g.41386704GA[10], NC_000019.9:g.41386704GA[11], NC_000019.9:g.41386704GA[12], NC_000019.9:g.41386704GA[13], NC_000019.9:g.41386704GA[14], NC_000019.9:g.41386704GA[15], NC_000019.9:g.41386704GA[16], NC_000019.9:g.41386704GA[17], NC_000019.9:g.41386704GA[18], NC_000019.9:g.41386704GA[19], NC_000019.9:g.41386704GA[20], NC_000019.9:g.41386704GA[21], NC_000019.9:g.41386704GA[22], NC_000019.9:g.41386704GA[23], NC_000019.9:g.41386704GA[24], NC_000019.9:g.41386704GA[25], NC_000019.9:g.41386704GA[26], NC_000019.9:g.41386704GA[27], NC_000019.9:g.41386704GA[28], NC_000019.9:g.41386704GA[29], NC_000019.9:g.41386704GA[30], NC_000019.9:g.41386704GA[31], NC_000019.9:g.41386704GA[33], NC_000019.9:g.41386704GA[34], NC_000019.9:g.41386704GA[35], NC_000019.9:g.41386704GA[37], NC_000019.9:g.41386704GA[38], NC_000019.9:g.41386704GA[39], NG_007960.1:g.6891TC[9], NG_007960.1:g.6891TC[10], NG_007960.1:g.6891TC[11], NG_007960.1:g.6891TC[12], NG_007960.1:g.6891TC[13], NG_007960.1:g.6891TC[14], NG_007960.1:g.6891TC[15], NG_007960.1:g.6891TC[16], NG_007960.1:g.6891TC[17], NG_007960.1:g.6891TC[18], NG_007960.1:g.6891TC[19], NG_007960.1:g.6891TC[20], NG_007960.1:g.6891TC[21], NG_007960.1:g.6891TC[22], NG_007960.1:g.6891TC[23], NG_007960.1:g.6891TC[24], NG_007960.1:g.6891TC[25], NG_007960.1:g.6891TC[26], NG_007960.1:g.6891TC[27], NG_007960.1:g.6891TC[28], NG_007960.1:g.6891TC[29], NG_007960.1:g.6891TC[30], NG_007960.1:g.6891TC[31], NG_007960.1:g.6891TC[33], NG_007960.1:g.6891TC[34], NG_007960.1:g.6891TC[35], NG_007960.1:g.6891TC[37], NG_007960.1:g.6891TC[38], NG_007960.1:g.6891TC[39]
17.
rs1489478411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACTCG
[Show Flanks]
- Chromosome:
- 19:40880455
(GRCh38)
19:41386361
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880455:CGCACTCG:CGCACTCGCACTCG
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGCACTCGCACTCG=0./0
(
ALFA)
CGCACT=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489453836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:40880707
(GRCh38)
19:41386612
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880706:A:G
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000023/3
(GnomAD)
- HGVS:
19.
rs1489354849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:40875874
(GRCh38)
19:41381779
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40875873:C:G,NC_000019.10:40875873:C:T
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.40875874C>G, NC_000019.10:g.40875874C>T, NC_000019.9:g.41381779C>G, NC_000019.9:g.41381779C>T, NG_007960.1:g.11879G>C, NG_007960.1:g.11879G>A, NM_000764.2:c.1304G>C, NM_000764.2:c.1304G>A, NM_000764.3:c.1304G>C, NM_000764.3:c.1304G>A, NM_030589.2:c.1151G>C, NM_030589.2:c.1151G>A, NM_030589.3:c.1151G>C, NM_030589.3:c.1151G>A, NP_000755.2:p.Gly435Ala, NP_000755.2:p.Gly435Glu, NP_085079.2:p.Gly384Ala, NP_085079.2:p.Gly384Glu
20.
rs1489245217 has merged into rs1171374070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 19:40880817
(GRCh38)
19:41386722
(GRCh37)
- Canonical SPDI:
- NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:40880798:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- CYP2A7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.40880799GA[9], NC_000019.10:g.40880799GA[10], NC_000019.10:g.40880799GA[11], NC_000019.10:g.40880799GA[12], NC_000019.10:g.40880799GA[13], NC_000019.10:g.40880799GA[14], NC_000019.10:g.40880799GA[15], NC_000019.10:g.40880799GA[16], NC_000019.10:g.40880799GA[17], NC_000019.10:g.40880799GA[18], NC_000019.10:g.40880799GA[19], NC_000019.10:g.40880799GA[20], NC_000019.10:g.40880799GA[21], NC_000019.10:g.40880799GA[22], NC_000019.10:g.40880799GA[23], NC_000019.10:g.40880799GA[24], NC_000019.10:g.40880799GA[25], NC_000019.10:g.40880799GA[26], NC_000019.10:g.40880799GA[27], NC_000019.10:g.40880799GA[28], NC_000019.10:g.40880799GA[29], NC_000019.10:g.40880799GA[30], NC_000019.10:g.40880799GA[31], NC_000019.10:g.40880799GA[33], NC_000019.10:g.40880799GA[34], NC_000019.10:g.40880799GA[35], NC_000019.10:g.40880799GA[37], NC_000019.10:g.40880799GA[38], NC_000019.10:g.40880799GA[39], NC_000019.9:g.41386704GA[9], NC_000019.9:g.41386704GA[10], NC_000019.9:g.41386704GA[11], NC_000019.9:g.41386704GA[12], NC_000019.9:g.41386704GA[13], NC_000019.9:g.41386704GA[14], NC_000019.9:g.41386704GA[15], NC_000019.9:g.41386704GA[16], NC_000019.9:g.41386704GA[17], NC_000019.9:g.41386704GA[18], NC_000019.9:g.41386704GA[19], NC_000019.9:g.41386704GA[20], NC_000019.9:g.41386704GA[21], NC_000019.9:g.41386704GA[22], NC_000019.9:g.41386704GA[23], NC_000019.9:g.41386704GA[24], NC_000019.9:g.41386704GA[25], NC_000019.9:g.41386704GA[26], NC_000019.9:g.41386704GA[27], NC_000019.9:g.41386704GA[28], NC_000019.9:g.41386704GA[29], NC_000019.9:g.41386704GA[30], NC_000019.9:g.41386704GA[31], NC_000019.9:g.41386704GA[33], NC_000019.9:g.41386704GA[34], NC_000019.9:g.41386704GA[35], NC_000019.9:g.41386704GA[37], NC_000019.9:g.41386704GA[38], NC_000019.9:g.41386704GA[39], NG_007960.1:g.6891TC[9], NG_007960.1:g.6891TC[10], NG_007960.1:g.6891TC[11], NG_007960.1:g.6891TC[12], NG_007960.1:g.6891TC[13], NG_007960.1:g.6891TC[14], NG_007960.1:g.6891TC[15], NG_007960.1:g.6891TC[16], NG_007960.1:g.6891TC[17], NG_007960.1:g.6891TC[18], NG_007960.1:g.6891TC[19], NG_007960.1:g.6891TC[20], NG_007960.1:g.6891TC[21], NG_007960.1:g.6891TC[22], NG_007960.1:g.6891TC[23], NG_007960.1:g.6891TC[24], NG_007960.1:g.6891TC[25], NG_007960.1:g.6891TC[26], NG_007960.1:g.6891TC[27], NG_007960.1:g.6891TC[28], NG_007960.1:g.6891TC[29], NG_007960.1:g.6891TC[30], NG_007960.1:g.6891TC[31], NG_007960.1:g.6891TC[33], NG_007960.1:g.6891TC[34], NG_007960.1:g.6891TC[35], NG_007960.1:g.6891TC[37], NG_007960.1:g.6891TC[38], NG_007960.1:g.6891TC[39]