SNP Links for Gene (Select 84830) - SNP

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Select item 14915711561.

rs1491571156 has merged into rs66700409 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:11741729 (GRCh38)
6:11741962 (GRCh37)
Canonical SPDI:: NC_000006.12:11741721:AAAAAAAAAA:AAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:11741721:AAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.2871/1438 (1000Genomes)
HGVS:: NC_000006.12:g.11741729_11741731del, NC_000006.12:g.11741730_11741731del, NC_000006.12:g.11741731del, NC_000006.12:g.11741731dup, NC_000006.12:g.11741730_11741731dup, NC_000006.12:g.11741729_11741731dup, NC_000006.12:g.11741728_11741731dup, NC_000006.12:g.11741727_11741731dup, NC_000006.12:g.11741726_11741731dup, NC_000006.12:g.11741725_11741731dup, NC_000006.12:g.11741724_11741731dup, NC_000006.11:g.11741962_11741964del, NC_000006.11:g.11741963_11741964del, NC_000006.11:g.11741964del, NC_000006.11:g.11741964dup, NC_000006.11:g.11741963_11741964dup, NC_000006.11:g.11741962_11741964dup, NC_000006.11:g.11741961_11741964dup, NC_000006.11:g.11741960_11741964dup, NC_000006.11:g.11741959_11741964dup, NC_000006.11:g.11741958_11741964dup, NC_000006.11:g.11741957_11741964dup

Select item 14915077632.

rs1491507763 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:11779973 (GRCh38)
6:11780206 (GRCh37)
Canonical SPDI:: NC_000006.12:11779972:CA:
Gene:: ADTRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04228/188 (ALFA)
-=0.00156/26 (TOMMO)
-=0.01365/25 (Korea1K)
HGVS:: NC_000006.12:g.11779973_11779974del, NC_000006.11:g.11780206_11780207del

Select item 14914992683.

rs1491499268 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 6:11745187 (GRCh38)
6:11745421 (GRCh37)
Canonical SPDI:: NC_000006.12:11745187::TC
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000006.12:g.11745187_11745188insTC, NC_000006.11:g.11745420_11745421insTC

Select item 14914446774.

rs1491444677 has merged into rs3069335 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:11713991 (GRCh38)
6:11714224 (GRCh37)
Canonical SPDI:: NC_000006.12:11713980:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:11713980:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:11713980:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:11713980:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:11713980:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ADTRP (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.0008/5 (ALFA)
-=0.4877/1922 (1000Genomes)
HGVS:: NC_000006.12:g.11713991_11713993del, NC_000006.12:g.11713992_11713993del, NC_000006.12:g.11713993del, NC_000006.12:g.11713993dup, NC_000006.12:g.11713992_11713993dup, NC_000006.11:g.11714224_11714226del, NC_000006.11:g.11714225_11714226del, NC_000006.11:g.11714226del, NC_000006.11:g.11714226dup, NC_000006.11:g.11714225_11714226dup, NM_032744.4:c.*495_*497del, NM_032744.4:c.*496_*497del, NM_032744.4:c.*497del, NM_032744.4:c.*497dup, NM_032744.4:c.*496_*497dup, NM_032744.3:c.*495_*497del, NM_032744.3:c.*496_*497del, NM_032744.3:c.*497del, NM_032744.3:c.*497dup, NM_032744.3:c.*496_*497dup, XM_011514956.2:c.*526_*528del, XM_011514956.2:c.*527_*528del, XM_011514956.2:c.*528del, XM_011514956.2:c.*528dup, XM_011514956.2:c.*527_*528dup, XM_011514956.1:c.*526_*528del, XM_011514956.1:c.*527_*528del, XM_011514956.1:c.*528del, XM_011514956.1:c.*528dup, XM_011514956.1:c.*527_*528dup, NM_001143948.2:c.*495_*497del, NM_001143948.2:c.*496_*497del, NM_001143948.2:c.*497del, NM_001143948.2:c.*497dup, NM_001143948.2:c.*496_*497dup, NM_001143948.1:c.*495_*497del, NM_001143948.1:c.*496_*497del, NM_001143948.1:c.*497del, NM_001143948.1:c.*497dup, NM_001143948.1:c.*496_*497dup, XM_047419420.1:c.*526_*528del, XM_047419420.1:c.*527_*528del, XM_047419420.1:c.*528del, XM_047419420.1:c.*528dup, XM_047419420.1:c.*527_*528dup

Select item 14913458315.

rs1491345831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:11779973 (GRCh38)
6:11780207 (GRCh37)
Canonical SPDI:: NC_000006.12:11779973:A:AA
Gene:: ADTRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.00025/3 (ALFA)
A=0.00708/62 (GnomAD)
HGVS:: NC_000006.12:g.11779974dup, NC_000006.11:g.11780207dup

Select item 14912650466.

rs1491265046 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:11730935 (GRCh38)
6:11731169 (GRCh37)
Canonical SPDI:: NC_000006.12:11730935:GGGGG:GGGGGG
Gene:: ADTRP (Varview), LOC124901258 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.11730940dup, NC_000006.11:g.11731173dup, XR_007059452.1:n.1133dup

Select item 14912297827.

rs1491229782 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:11741721 (GRCh38)
6:11741954 (GRCh37)
Canonical SPDI:: NC_000006.12:11741720:TA:
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000011/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.11741721_11741722del, NC_000006.11:g.11741954_11741955del

Select item 14912178768.

rs1491217876 [Homo sapiens]

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

Select item 14911045249.

rs1491104524 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:11713980 (GRCh38)
6:11714213 (GRCh37)
Canonical SPDI:: NC_000006.12:11713979:TA:
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.11713980_11713981del, NC_000006.11:g.11714213_11714214del, NM_032744.4:c.*497_*498del, NM_032744.3:c.*497_*498del, XM_011514956.2:c.*528_*529del, XM_011514956.1:c.*528_*529del, NM_001143948.2:c.*497_*498del, NM_001143948.1:c.*497_*498del, XM_047419420.1:c.*528_*529del

Select item 149109528110.

rs1491095281 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 6:11745180 (GRCh38)
6:11745414 (GRCh37)
Canonical SPDI:: NC_000006.12:11745180::CT
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.11745180_11745181insCT, NC_000006.11:g.11745413_11745414insCT

Select item 149104022411.

rs1491040224 has merged into rs200988424 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT [Show Flanks]
Chromosome:: 6:11734721 (GRCh38)
6:11734954 (GRCh37)
Canonical SPDI:: NC_000006.12:11734706:CTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCT,NC_000006.12:11734706:CTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000006.12:11734706:CTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000006.12:11734706:CTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:11734706:CTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT
Gene:: ADTRP (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.072073/19077 (TOPMED)
CT=0.145767/730 (1000Genomes)
HGVS:: NC_000006.12:g.11734707CT[7], NC_000006.12:g.11734707CT[8], NC_000006.12:g.11734707CT[10], NC_000006.12:g.11734707CT[11], NC_000006.12:g.11734707CT[12], NC_000006.11:g.11734940CT[7], NC_000006.11:g.11734940CT[8], NC_000006.11:g.11734940CT[10], NC_000006.11:g.11734940CT[11], NC_000006.11:g.11734940CT[12], XM_011514959.2:c.*706AG[7], XM_011514959.2:c.*706AG[8], XM_011514959.2:c.*706AG[10], XM_011514959.2:c.*706AG[11], XM_011514959.2:c.*706AG[12], XM_011514959.1:c.*706AG[7], XM_011514959.1:c.*706AG[8], XM_011514959.1:c.*706AG[10], XM_011514959.1:c.*706AG[11], XM_011514959.1:c.*706AG[12]

Select item 149098662012.

rs1490986620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:11718014 (GRCh38)
6:11718247 (GRCh37)
Canonical SPDI:: NC_000006.12:11718013:G:A
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.11718014G>A, NC_000006.11:g.11718247G>A

Select item 149089567613.

rs1490895676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:11724620 (GRCh38)
6:11724853 (GRCh37)
Canonical SPDI:: NC_000006.12:11724619:C:T
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.11724620C>T, NC_000006.11:g.11724853C>T

Select item 149087870314.

rs1490878703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:11758556 (GRCh38)
6:11758789 (GRCh37)
Canonical SPDI:: NC_000006.12:11758555:A:C,NC_000006.12:11758555:A:T
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00016/9 (GnomAD)
HGVS:: NC_000006.12:g.11758556A>C, NC_000006.12:g.11758556A>T, NC_000006.11:g.11758789A>C, NC_000006.11:g.11758789A>T

Select item 149085581115.

rs1490855811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:11757403 (GRCh38)
6:11757636 (GRCh37)
Canonical SPDI:: NC_000006.12:11757402:C:T
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.11757403C>T, NC_000006.11:g.11757636C>T

Select item 149081424216.

rs1490814242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:11765317 (GRCh38)
6:11765550 (GRCh37)
Canonical SPDI:: NC_000006.12:11765316:T:C
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.11765317T>C, NC_000006.11:g.11765550T>C

Select item 149066785517.

rs1490667855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:11766678 (GRCh38)
6:11766911 (GRCh37)
Canonical SPDI:: NC_000006.12:11766677:G:A
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.11766678G>A, NC_000006.11:g.11766911G>A

Select item 149065205518.

rs1490652055 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:11765606 (GRCh38)
6:11765839 (GRCh37)
Canonical SPDI:: NC_000006.12:11765605:AA:
Gene:: ADTRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.11765606_11765607del, NC_000006.11:g.11765839_11765840del

Select item 149062850319.

rs1490628503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:11750139 (GRCh38)
6:11750372 (GRCh37)
Canonical SPDI:: NC_000006.12:11750138:T:A,NC_000006.12:11750138:T:G
Gene:: ADTRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.11750139T>A, NC_000006.12:g.11750139T>G, NC_000006.11:g.11750372T>A, NC_000006.11:g.11750372T>G

Select item 149058565520.

rs1490585655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:11734329 (GRCh38)
6:11734562 (GRCh37)
Canonical SPDI:: NC_000006.12:11734328:T:C
Gene:: ADTRP (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.11734329T>C, NC_000006.11:g.11734562T>C

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