Links from Gene
Items: 1 to 20 of 1000
1.
rs1491568210 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 11:63410261
(GRCh38)
11:63177733
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63410259:AGA:A
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.008009/95
(
ALFA)
-=0.000024/3
(GnomAD)
- HGVS:
2.
rs1491453190 has merged into rs1357829553 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAA>-,GAAAGAAA,GAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAA
[Show Flanks]
- Chromosome:
- 11:63410281
(GRCh38)
11:63177753
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63410268:GAAAGAAAGAAAGAAA:GAAAGAAAGAAA,NC_000011.10:63410268:GAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAA,NC_000011.10:63410268:GAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAA,NC_000011.10:63410268:GAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAAAGAAAGAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000342/8
(TOMMO)
- HGVS:
NC_000011.10:g.63410269GAAA[3], NC_000011.10:g.63410269GAAA[5], NC_000011.10:g.63410269GAAA[6], NC_000011.10:g.63410269GAAA[9], NC_000011.9:g.63177741GAAA[3], NC_000011.9:g.63177741GAAA[5], NC_000011.9:g.63177741GAAA[6], NC_000011.9:g.63177741GAAA[9], NM_080866.3:c.*407GAAA[3], NM_080866.3:c.*407GAAA[5], NM_080866.3:c.*407GAAA[6], NM_080866.3:c.*407GAAA[9], XM_017017159.3:c.*418GAAA[3], XM_017017159.3:c.*418GAAA[5], XM_017017159.3:c.*418GAAA[6], XM_017017159.3:c.*418GAAA[9], XM_017017159.1:c.*418GAAA[3], XM_017017159.1:c.*418GAAA[5], XM_017017159.1:c.*418GAAA[6], XM_017017159.1:c.*418GAAA[9], XM_047426335.1:c.*407GAAA[3], XM_047426335.1:c.*407GAAA[5], XM_047426335.1:c.*407GAAA[6], XM_047426335.1:c.*407GAAA[9]
3.
rs1491429742 has merged into rs35546649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 11:63388729
(GRCh38)
11:63156201
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.24973/926
(TWINSUK)
-=0.25/10
(GENOME_DK)
-=0.25039/965
(ALSPAC)
-=0.26844/1172
(Estonian)
-=0.28172/1310
(1000Genomes)
- HGVS:
NC_000011.10:g.63388729_63388730del, NC_000011.10:g.63388730del, NC_000011.10:g.63388730dup, NC_000011.10:g.63388729_63388730dup, NC_000011.10:g.63388728_63388730dup, NC_000011.10:g.63388727_63388730dup, NC_000011.9:g.63156201_63156202del, NC_000011.9:g.63156202del, NC_000011.9:g.63156202dup, NC_000011.9:g.63156201_63156202dup, NC_000011.9:g.63156200_63156202dup, NC_000011.9:g.63156199_63156202dup
4.
rs1491401404 has merged into rs78765214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 11:63382207
(GRCh38)
11:63149679
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAA,NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAA,NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant,inframe_deletion
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0.018208/501
(
ALFA)
AA=0.000004/1
(TOPMED)
A=0.138095/29
(1000Genomes)
- HGVS:
NC_000011.10:g.63382207_63382209del, NC_000011.10:g.63382208_63382209del, NC_000011.10:g.63382209del, NC_000011.10:g.63382209dup, NC_000011.10:g.63382208_63382209dup, NC_000011.9:g.63149679_63149681del, NC_000011.9:g.63149680_63149681del, NC_000011.9:g.63149681del, NC_000011.9:g.63149681dup, NC_000011.9:g.63149680_63149681dup, NM_080866.3:c.1003_1005del, NM_080866.3:c.1004_1005del, NM_080866.3:c.1005del, NM_080866.3:c.1005dup, NM_080866.3:c.1004_1005dup, NM_080866.2:c.1003_1005del, NM_080866.2:c.1004_1005del, NM_080866.2:c.1005del, NM_080866.2:c.1005dup, NM_080866.2:c.1004_1005dup, XM_017017159.3:c.1003_1005del, XM_017017159.3:c.1004_1005del, XM_017017159.3:c.1005del, XM_017017159.3:c.1005dup, XM_017017159.3:c.1004_1005dup, XM_017017159.2:c.1003_1005del, XM_017017159.2:c.1004_1005del, XM_017017159.2:c.1005del, XM_017017159.2:c.1005dup, XM_017017159.2:c.1004_1005dup, XM_017017159.1:c.1003_1005del, XM_017017159.1:c.1004_1005del, XM_017017159.1:c.1005del, XM_017017159.1:c.1005dup, XM_017017159.1:c.1004_1005dup, XM_047426335.1:c.310_312del, XM_047426335.1:c.311_312del, XM_047426335.1:c.312del, XM_047426335.1:c.312dup, XM_047426335.1:c.311_312dup, NP_543142.2:p.Lys335del, NP_543142.2:p.Lys335fs, NP_543142.2:p.Lys335fs, NP_543142.2:p.Pro336fs, NP_543142.2:p.Pro336fs, XP_016872648.1:p.Lys335del, XP_016872648.1:p.Lys335fs, XP_016872648.1:p.Lys335fs, XP_016872648.1:p.Pro336fs, XP_016872648.1:p.Pro336fs, XP_047282291.1:p.Lys104del, XP_047282291.1:p.Lys104fs, XP_047282291.1:p.Lys104fs, XP_047282291.1:p.Pro105fs, XP_047282291.1:p.Pro105fs
5.
rs1491225324 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 11:63410268
(GRCh38)
11:63177740
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63410267:GG:
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00527/88
(TOMMO)
- HGVS:
6.
rs1491085603 has merged into rs149124193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:63385118
(GRCh38)
11:63152590
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:63385106:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.63385118_63385127del, NC_000011.10:g.63385119_63385127del, NC_000011.10:g.63385120_63385127del, NC_000011.10:g.63385121_63385127del, NC_000011.10:g.63385123_63385127del, NC_000011.10:g.63385124_63385127del, NC_000011.10:g.63385125_63385127del, NC_000011.10:g.63385126_63385127del, NC_000011.10:g.63385127del, NC_000011.10:g.63385127dup, NC_000011.10:g.63385126_63385127dup, NC_000011.10:g.63385125_63385127dup, NC_000011.10:g.63385124_63385127dup, NC_000011.10:g.63385123_63385127dup, NC_000011.10:g.63385122_63385127dup, NC_000011.10:g.63385121_63385127dup, NC_000011.10:g.63385120_63385127dup, NC_000011.10:g.63385119_63385127dup, NC_000011.10:g.63385118_63385127dup, NC_000011.10:g.63385117_63385127dup, NC_000011.10:g.63385116_63385127dup, NC_000011.10:g.63385115_63385127dup, NC_000011.10:g.63385109_63385127dup, NC_000011.10:g.63385108_63385127dup, NC_000011.10:g.63385107_63385127T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.63385127_63385128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.63152590_63152599del, NC_000011.9:g.63152591_63152599del, NC_000011.9:g.63152592_63152599del, NC_000011.9:g.63152593_63152599del, NC_000011.9:g.63152595_63152599del, NC_000011.9:g.63152596_63152599del, NC_000011.9:g.63152597_63152599del, NC_000011.9:g.63152598_63152599del, NC_000011.9:g.63152599del, NC_000011.9:g.63152599dup, NC_000011.9:g.63152598_63152599dup, NC_000011.9:g.63152597_63152599dup, NC_000011.9:g.63152596_63152599dup, NC_000011.9:g.63152595_63152599dup, NC_000011.9:g.63152594_63152599dup, NC_000011.9:g.63152593_63152599dup, NC_000011.9:g.63152592_63152599dup, NC_000011.9:g.63152591_63152599dup, NC_000011.9:g.63152590_63152599dup, NC_000011.9:g.63152589_63152599dup, NC_000011.9:g.63152588_63152599dup, NC_000011.9:g.63152587_63152599dup, NC_000011.9:g.63152581_63152599dup, NC_000011.9:g.63152580_63152599dup, NC_000011.9:g.63152579_63152599T[48]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.63152599_63152600insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491046278 has merged into rs35546649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 11:63388729
(GRCh38)
11:63156201
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:63388720:TTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.24973/926
(TWINSUK)
-=0.25/10
(GENOME_DK)
-=0.25039/965
(ALSPAC)
-=0.26844/1172
(Estonian)
-=0.28172/1310
(1000Genomes)
- HGVS:
NC_000011.10:g.63388729_63388730del, NC_000011.10:g.63388730del, NC_000011.10:g.63388730dup, NC_000011.10:g.63388729_63388730dup, NC_000011.10:g.63388728_63388730dup, NC_000011.10:g.63388727_63388730dup, NC_000011.9:g.63156201_63156202del, NC_000011.9:g.63156202del, NC_000011.9:g.63156202dup, NC_000011.9:g.63156201_63156202dup, NC_000011.9:g.63156200_63156202dup, NC_000011.9:g.63156199_63156202dup
8.
rs1490988920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:63385116
(GRCh38)
11:63152588
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63385115:T:G
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
9.
rs1490894710 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:63369910
(GRCh38)
11:63137383
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63369910:G:GG
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490833360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:63407165
(GRCh38)
11:63174637
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63407164:C:T
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490732677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:63392337
(GRCh38)
11:63159809
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63392336:G:A
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490708920 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:63386673
(GRCh38)
11:63154146
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63386673:C:CC
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
13.
rs1490705009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:63406231
(GRCh38)
11:63173703
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63406227:ACACA:ACA
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490693853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:63388931
(GRCh38)
11:63156403
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63388930:A:G
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490453712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:63373887
(GRCh38)
11:63141359
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63373886:C:G
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490345992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:63401642
(GRCh38)
11:63169114
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63401641:A:C
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490321214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:63404054
(GRCh38)
11:63171526
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63404053:A:C
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490271694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:63368688
(GRCh38)
11:63136160
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63368687:C:G
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490198434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:63405782
(GRCh38)
11:63173254
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63405781:A:G
- Gene:
- SLC22A9 (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:
20.
rs1490021558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:63376487
(GRCh38)
11:63143959
(GRCh37)
- Canonical SPDI:
- NC_000011.10:63376486:C:A,NC_000011.10:63376486:C:T
- Gene:
- SLC22A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: