Links from Gene
Items: 1 to 20 of 1000
1.
rs1491002253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:136016156
(GRCh38)
X:135098315
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136016155:G:A
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000039/4
(GnomAD)
- HGVS:
3.
rs1490829657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135983941
(GRCh38)
X:135066100
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135983940:T:C
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490733133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- X:136029108
(GRCh38)
X:135111267
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136029107:AAAAAA:AAAAA
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490709043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:136005118
(GRCh38)
X:135087277
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136005117:T:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490591325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:135995427
(GRCh38)
X:135077586
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135995426:A:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/3
(GnomAD)
G=0.00036/5
(TOMMO)
- HGVS:
8.
rs1490522663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:135973878
(GRCh38)
X:135056037
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135973877:A:G
- Gene:
- SLC9A6 (Varview), MMGT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490473286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:136039950
(GRCh38)
X:135122109
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136039949:C:T
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490460451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:136015353
(GRCh38)
X:135097512
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136015352:T:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490335138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:135984760
(GRCh38)
X:135066919
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135984759:T:A
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000142/2
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490312167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:136004269
(GRCh38)
X:135086428
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136004268:A:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1490192479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:136027903
(GRCh38)
X:135110062
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136027902:C:T
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
16.
rs1490102000 has merged into rs1167208674 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:135996036
(GRCh38)
X:135078195
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:135996023:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.135996036_135996049del, NC_000023.11:g.135996037_135996049del, NC_000023.11:g.135996038_135996049del, NC_000023.11:g.135996039_135996049del, NC_000023.11:g.135996040_135996049del, NC_000023.11:g.135996041_135996049del, NC_000023.11:g.135996043_135996049del, NC_000023.11:g.135996044_135996049del, NC_000023.11:g.135996045_135996049del, NC_000023.11:g.135996046_135996049del, NC_000023.11:g.135996047_135996049del, NC_000023.11:g.135996048_135996049del, NC_000023.11:g.135996049del, NC_000023.11:g.135996049dup, NC_000023.11:g.135996048_135996049dup, NC_000023.11:g.135996047_135996049dup, NC_000023.11:g.135996046_135996049dup, NC_000023.11:g.135996045_135996049dup, NC_000023.11:g.135996024_135996049dup, NC_000023.10:g.135078195_135078208del, NC_000023.10:g.135078196_135078208del, NC_000023.10:g.135078197_135078208del, NC_000023.10:g.135078198_135078208del, NC_000023.10:g.135078199_135078208del, NC_000023.10:g.135078200_135078208del, NC_000023.10:g.135078202_135078208del, NC_000023.10:g.135078203_135078208del, NC_000023.10:g.135078204_135078208del, NC_000023.10:g.135078205_135078208del, NC_000023.10:g.135078206_135078208del, NC_000023.10:g.135078207_135078208del, NC_000023.10:g.135078208del, NC_000023.10:g.135078208dup, NC_000023.10:g.135078207_135078208dup, NC_000023.10:g.135078206_135078208dup, NC_000023.10:g.135078205_135078208dup, NC_000023.10:g.135078204_135078208dup, NC_000023.10:g.135078183_135078208dup, NG_017160.1:g.15610_15623del, NG_017160.1:g.15611_15623del, NG_017160.1:g.15612_15623del, NG_017160.1:g.15613_15623del, NG_017160.1:g.15614_15623del, NG_017160.1:g.15615_15623del, NG_017160.1:g.15617_15623del, NG_017160.1:g.15618_15623del, NG_017160.1:g.15619_15623del, NG_017160.1:g.15620_15623del, NG_017160.1:g.15621_15623del, NG_017160.1:g.15622_15623del, NG_017160.1:g.15623del, NG_017160.1:g.15623dup, NG_017160.1:g.15622_15623dup, NG_017160.1:g.15621_15623dup, NG_017160.1:g.15620_15623dup, NG_017160.1:g.15619_15623dup, NG_017160.1:g.15598_15623dup, NW_004070887.1:g.927179_927192del, NW_004070887.1:g.927180_927192del, NW_004070887.1:g.927181_927192del, NW_004070887.1:g.927182_927192del, NW_004070887.1:g.927183_927192del, NW_004070887.1:g.927184_927192del, NW_004070887.1:g.927186_927192del, NW_004070887.1:g.927187_927192del, NW_004070887.1:g.927188_927192del, NW_004070887.1:g.927189_927192del, NW_004070887.1:g.927190_927192del, NW_004070887.1:g.927191_927192del, NW_004070887.1:g.927192del, NW_004070887.1:g.927192dup, NW_004070887.1:g.927191_927192dup, NW_004070887.1:g.927190_927192dup, NW_004070887.1:g.927189_927192dup, NW_004070887.1:g.927188_927192dup, NW_004070887.1:g.927167_927192dup
17.
rs1490036004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:135994381
(GRCh38)
X:135076540
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135994380:A:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
18.
rs1489984908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:136040835
(GRCh38)
X:135122994
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136040834:A:G
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000134/14
(GnomAD)
G=0.000144/38
(TOPMED)
- HGVS:
19.
rs1489946440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:136016002
(GRCh38)
X:135098161
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136016001:G:A
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489692840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:136007230
(GRCh38)
X:135089389
(GRCh37)
- Canonical SPDI:
- NC_000023.11:136007229:C:T
- Gene:
- SLC9A6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: