Links from Gene
Items: 1 to 20 of 1097
1.
rs1491520110 has merged into rs10582500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:203066
(GRCh38)
12:312232
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.203066_203084del, NC_000012.12:g.203068_203084del, NC_000012.12:g.203070_203084del, NC_000012.12:g.203071_203084del, NC_000012.12:g.203072_203084del, NC_000012.12:g.203073_203084del, NC_000012.12:g.203074_203084del, NC_000012.12:g.203076_203084del, NC_000012.12:g.203077_203084del, NC_000012.12:g.203078_203084del, NC_000012.12:g.203079_203084del, NC_000012.12:g.203080_203084del, NC_000012.12:g.203081_203084del, NC_000012.12:g.203082_203084del, NC_000012.12:g.203083_203084del, NC_000012.12:g.203084del, NC_000012.12:g.203084dup, NC_000012.12:g.203083_203084dup, NC_000012.12:g.203082_203084dup, NC_000012.12:g.203081_203084dup, NC_000012.12:g.203080_203084dup, NC_000012.12:g.203079_203084dup, NC_000012.12:g.203078_203084dup, NC_000012.12:g.203077_203084dup, NC_000012.12:g.203076_203084dup, NC_000012.12:g.203075_203084dup, NC_000012.12:g.203074_203084dup, NC_000012.12:g.203073_203084dup, NC_000012.12:g.203072_203084dup, NC_000012.12:g.203071_203084dup, NC_000012.12:g.203070_203084dup, NC_000012.12:g.203069_203084dup, NC_000012.12:g.203068_203084dup, NC_000012.12:g.203067_203084dup, NC_000012.12:g.203066_203084dup, NC_000012.12:g.203064_203084dup, NC_000012.12:g.203062_203084dup, NC_000012.12:g.203061_203084dup, NC_000012.12:g.203060_203084dup, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312232_312250del, NC_000012.11:g.312234_312250del, NC_000012.11:g.312236_312250del, NC_000012.11:g.312237_312250del, NC_000012.11:g.312238_312250del, NC_000012.11:g.312239_312250del, NC_000012.11:g.312240_312250del, NC_000012.11:g.312242_312250del, NC_000012.11:g.312243_312250del, NC_000012.11:g.312244_312250del, NC_000012.11:g.312245_312250del, NC_000012.11:g.312246_312250del, NC_000012.11:g.312247_312250del, NC_000012.11:g.312248_312250del, NC_000012.11:g.312249_312250del, NC_000012.11:g.312250del, NC_000012.11:g.312250dup, NC_000012.11:g.312249_312250dup, NC_000012.11:g.312248_312250dup, NC_000012.11:g.312247_312250dup, NC_000012.11:g.312246_312250dup, NC_000012.11:g.312245_312250dup, NC_000012.11:g.312244_312250dup, NC_000012.11:g.312243_312250dup, NC_000012.11:g.312242_312250dup, NC_000012.11:g.312241_312250dup, NC_000012.11:g.312240_312250dup, NC_000012.11:g.312239_312250dup, NC_000012.11:g.312238_312250dup, NC_000012.11:g.312237_312250dup, NC_000012.11:g.312236_312250dup, NC_000012.11:g.312235_312250dup, NC_000012.11:g.312234_312250dup, NC_000012.11:g.312233_312250dup, NC_000012.11:g.312232_312250dup, NC_000012.11:g.312230_312250dup, NC_000012.11:g.312228_312250dup, NC_000012.11:g.312227_312250dup, NC_000012.11:g.312226_312250dup, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1490505887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:203037
(GRCh38)
12:312203
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203036:A:G,NC_000012.12:203036:A:T
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00119/14
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
4.
rs1490111728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:201729
(GRCh38)
12:310895
(GRCh37)
- Canonical SPDI:
- NC_000012.12:201728:T:C
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(GnomAD_exomes)
C=0.000011/3
(TOPMED)
- HGVS:
5.
rs1488993638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:202994
(GRCh38)
12:312160
(GRCh37)
- Canonical SPDI:
- NC_000012.12:202993:C:A
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1488667883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:203610
(GRCh38)
12:312776
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203609:C:T
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1488271820 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCGTCCGGC>-,CCGTCCGGCCCGTCCGGC
[Show Flanks]
- Chromosome:
- 12:203667
(GRCh38)
12:312833
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203657:CCGTCCGGCCCGTCCGGC:CCGTCCGGC,NC_000012.12:203657:CCGTCCGGCCCGTCCGGC:CCGTCCGGCCCGTCCGGCCCGTCCGGC
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCGTCCGGCCCGTCCGGCCCGTCCGGC=0./0
(
ALFA)
- HGVS:
8.
rs1488004179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:202033
(GRCh38)
12:311199
(GRCh37)
- Canonical SPDI:
- NC_000012.12:202032:T:C
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487478231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:203169
(GRCh38)
12:312335
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203168:C:T
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487261307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:205142
(GRCh38)
12:314308
(GRCh37)
- Canonical SPDI:
- NC_000012.12:205141:T:A
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_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)
- HGVS:
13.
rs1485560007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:203848
(GRCh38)
12:313014
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203847:G:A,NC_000012.12:203847:G:T
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484383255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:203498
(GRCh38)
12:312664
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203497:C:T
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00007/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
17.
rs1483077358 has merged into rs10582500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:203066
(GRCh38)
12:312232
(GRCh37)
- Canonical SPDI:
- NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.203066_203084del, NC_000012.12:g.203068_203084del, NC_000012.12:g.203070_203084del, NC_000012.12:g.203071_203084del, NC_000012.12:g.203072_203084del, NC_000012.12:g.203073_203084del, NC_000012.12:g.203074_203084del, NC_000012.12:g.203076_203084del, NC_000012.12:g.203077_203084del, NC_000012.12:g.203078_203084del, NC_000012.12:g.203079_203084del, NC_000012.12:g.203080_203084del, NC_000012.12:g.203081_203084del, NC_000012.12:g.203082_203084del, NC_000012.12:g.203083_203084del, NC_000012.12:g.203084del, NC_000012.12:g.203084dup, NC_000012.12:g.203083_203084dup, NC_000012.12:g.203082_203084dup, NC_000012.12:g.203081_203084dup, NC_000012.12:g.203080_203084dup, NC_000012.12:g.203079_203084dup, NC_000012.12:g.203078_203084dup, NC_000012.12:g.203077_203084dup, NC_000012.12:g.203076_203084dup, NC_000012.12:g.203075_203084dup, NC_000012.12:g.203074_203084dup, NC_000012.12:g.203073_203084dup, NC_000012.12:g.203072_203084dup, NC_000012.12:g.203071_203084dup, NC_000012.12:g.203070_203084dup, NC_000012.12:g.203069_203084dup, NC_000012.12:g.203068_203084dup, NC_000012.12:g.203067_203084dup, NC_000012.12:g.203066_203084dup, NC_000012.12:g.203064_203084dup, NC_000012.12:g.203062_203084dup, NC_000012.12:g.203061_203084dup, NC_000012.12:g.203060_203084dup, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312232_312250del, NC_000012.11:g.312234_312250del, NC_000012.11:g.312236_312250del, NC_000012.11:g.312237_312250del, NC_000012.11:g.312238_312250del, NC_000012.11:g.312239_312250del, NC_000012.11:g.312240_312250del, NC_000012.11:g.312242_312250del, NC_000012.11:g.312243_312250del, NC_000012.11:g.312244_312250del, NC_000012.11:g.312245_312250del, NC_000012.11:g.312246_312250del, NC_000012.11:g.312247_312250del, NC_000012.11:g.312248_312250del, NC_000012.11:g.312249_312250del, NC_000012.11:g.312250del, NC_000012.11:g.312250dup, NC_000012.11:g.312249_312250dup, NC_000012.11:g.312248_312250dup, NC_000012.11:g.312247_312250dup, NC_000012.11:g.312246_312250dup, NC_000012.11:g.312245_312250dup, NC_000012.11:g.312244_312250dup, NC_000012.11:g.312243_312250dup, NC_000012.11:g.312242_312250dup, NC_000012.11:g.312241_312250dup, NC_000012.11:g.312240_312250dup, NC_000012.11:g.312239_312250dup, NC_000012.11:g.312238_312250dup, NC_000012.11:g.312237_312250dup, NC_000012.11:g.312236_312250dup, NC_000012.11:g.312235_312250dup, NC_000012.11:g.312234_312250dup, NC_000012.11:g.312233_312250dup, NC_000012.11:g.312232_312250dup, NC_000012.11:g.312230_312250dup, NC_000012.11:g.312228_312250dup, NC_000012.11:g.312227_312250dup, NC_000012.11:g.312226_312250dup, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1482410814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:202646
(GRCh38)
12:311812
(GRCh37)
- Canonical SPDI:
- NC_000012.12:202645:G:A,NC_000012.12:202645:G:C
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1481846281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:204827
(GRCh38)
12:313993
(GRCh37)
- Canonical SPDI:
- NC_000012.12:204826:C:G
- Gene:
- SLC6A12 (Varview), SLC6A12-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: