SNP Links for Gene (Select 390790) - SNP

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Select item 14915869681.

rs1491586968 has merged into rs35110471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:39161529 (GRCh38)
17:37317782 (GRCh37)
Canonical SPDI:: NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:39161516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ARL5C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.04585/170 (TWINSUK)
-=0.04852/187 (ALSPAC)
HGVS:: NC_000017.11:g.39161529_39161531del, NC_000017.11:g.39161530_39161531del, NC_000017.11:g.39161531del, NC_000017.11:g.39161531dup, NC_000017.11:g.39161530_39161531dup, NC_000017.11:g.39161529_39161531dup, NC_000017.10:g.37317782_37317784del, NC_000017.10:g.37317783_37317784del, NC_000017.10:g.37317784del, NC_000017.10:g.37317784dup, NC_000017.10:g.37317783_37317784dup, NC_000017.10:g.37317782_37317784dup

Select item 14915285242.

rs1491528524 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:39163350 (GRCh38)
17:37319603 (GRCh37)
Canonical SPDI:: NC_000017.11:39163348:TCT:T
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39163350_39163351del, NC_000017.10:g.37319603_37319604del, XM_047435963.1:c.-215_-214del

Select item 14914962293.

rs1491496229 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTTCTTTCTT [Show Flanks]
Chromosome:: 17:39163349 (GRCh38)
17:37319603 (GRCh37)
Canonical SPDI:: NC_000017.11:39163349:CTTTCTTTCTT:CTTTCTTTCTTCCTTTCTTTCTT
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: CTTTCTTTCTTC=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.39163350_39163360CTTT[2]CTTCCTTTCTTTCTT[1], NC_000017.10:g.37319603_37319613CTTT[2]CTTCCTTTCTTTCTT[1], XM_047435963.1:c.-225_-215AAGA[2]AAGGAAGAAAGAAAG[1]

Select item 14914911404.

rs1491491140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTTCTTT,TTCTTTCTTT [Show Flanks]
Chromosome:: 17:39163346 (GRCh38)
17:37319600 (GRCh37)
Canonical SPDI:: NC_000017.11:39163346:TTTCTTTCTTT:TTTCTTTCTTTTCTTTCTTT,NC_000017.11:39163346:TTTCTTTCTTT:TTTCTTTCTTTTTCTTTCTTT
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTTTTCTTTCTTT=0./0 (ALFA)
TTTCTTTCT=0.000004/1 (TOPMED)
TTTCTTTCTT=0.000596/10 (GnomAD)
HGVS:: NC_000017.11:g.39163349_39163357dup, NC_000017.11:g.39163348_39163357dup, NC_000017.10:g.37319602_37319610dup, NC_000017.10:g.37319601_37319610dup, XM_047435963.1:c.-220_-212dup, XM_047435963.1:c.-221_-212dup

Select item 14914426505.

rs1491442650 has merged into rs59010635 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 17:39163712 (GRCh38)
17:37319965 (GRCh37)
Canonical SPDI:: NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:39163701:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.3141/1573 (1000Genomes)
HGVS:: NC_000017.11:g.39163712_39163718del, NC_000017.11:g.39163714_39163718del, NC_000017.11:g.39163715_39163718del, NC_000017.11:g.39163716_39163718del, NC_000017.11:g.39163717_39163718del, NC_000017.11:g.39163718del, NC_000017.11:g.39163718dup, NC_000017.11:g.39163717_39163718dup, NC_000017.11:g.39163715_39163718dup, NC_000017.10:g.37319965_37319971del, NC_000017.10:g.37319967_37319971del, NC_000017.10:g.37319968_37319971del, NC_000017.10:g.37319969_37319971del, NC_000017.10:g.37319970_37319971del, NC_000017.10:g.37319971del, NC_000017.10:g.37319971dup, NC_000017.10:g.37319970_37319971dup, NC_000017.10:g.37319968_37319971dup, XM_047435963.1:c.-573_-567del, XM_047435963.1:c.-571_-567del, XM_047435963.1:c.-570_-567del, XM_047435963.1:c.-569_-567del, XM_047435963.1:c.-568_-567del, XM_047435963.1:c.-567del, XM_047435963.1:c.-567dup, XM_047435963.1:c.-568_-567dup, XM_047435963.1:c.-570_-567dup

Select item 14913821676.

rs1491382167 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:39163354 (GRCh38)
17:37319607 (GRCh37)
Canonical SPDI:: NC_000017.11:39163352:TCT:T
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39163354_39163355del, NC_000017.10:g.37319607_37319608del, XM_047435963.1:c.-219_-218del

Select item 14912326317.

rs1491232631 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:39163701 (GRCh38)
17:37319954 (GRCh37)
Canonical SPDI:: NC_000017.11:39163700:CT:
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000224/1 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.39163701_39163702del, NC_000017.10:g.37319954_37319955del, XM_047435963.1:c.-567_-566del

Select item 14911537558.

rs1491153755 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:39163346 (GRCh38)
17:37319599 (GRCh37)
Canonical SPDI:: NC_000017.11:39163345:CT:
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.39163346_39163347del, NC_000017.10:g.37319599_37319600del, XM_047435963.1:c.-212_-211del

Select item 14910473609.

rs1491047360 has merged into rs1230556478 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 17:39163382 (GRCh38)
17:37319635 (GRCh37)
Canonical SPDI:: NC_000017.11:39163380:TCT:T,NC_000017.11:39163380:TCT:TCTCT
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/4 (ALFA)
-=0.00247/41 (TOMMO)
HGVS:: NC_000017.11:g.39163382_39163383del, NC_000017.11:g.39163382_39163383dup, NC_000017.10:g.37319635_37319636del, NC_000017.10:g.37319635_37319636dup, XM_047435963.1:c.-247_-246del, XM_047435963.1:c.-247_-246dup

Select item 149102250410.

rs1491022504 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 17:39163381 (GRCh38)
17:37319635 (GRCh37)
Canonical SPDI:: NC_000017.11:39163381::TC
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
HGVS:: NC_000017.11:g.39163381_39163382insTC, NC_000017.10:g.37319634_37319635insTC, XM_047435963.1:c.-247_-246insGA

Select item 149089520011.

rs1490895200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:39159696 (GRCh38)
17:37315949 (GRCh37)
Canonical SPDI:: NC_000017.11:39159695:G:A,NC_000017.11:39159695:G:T
Gene:: ARL5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.39159696G>A, NC_000017.11:g.39159696G>T, NC_000017.10:g.37315949G>A, NC_000017.10:g.37315949G>T

Select item 149086435512.

rs1490864355 [Homo sapiens]

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

Select item 149019113713.

rs1490191137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:39167816 (GRCh38)
17:37324069 (GRCh37)
Canonical SPDI:: NC_000017.11:39167815:A:C
Gene:: ARL5C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39167816A>C, NC_000017.10:g.37324069A>C

Select item 148992594714.

rs1489925947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:39161539 (GRCh38)
17:37317792 (GRCh37)
Canonical SPDI:: NC_000017.11:39161538:A:T
Gene:: ARL5C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39161539A>T, NC_000017.10:g.37317792A>T

Select item 148985968715.

rs1489859687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39159561 (GRCh38)
17:37315814 (GRCh37)
Canonical SPDI:: NC_000017.11:39159560:T:C
Gene:: ARL5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39159561T>C, NC_000017.10:g.37315814T>C

Select item 148965631016.

rs1489656310 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTTCC>- [Show Flanks]
Chromosome:: 17:39167166 (GRCh38)
17:37323419 (GRCh37)
Canonical SPDI:: NC_000017.11:39167163:CCTGCTTCC:CC
Gene:: ARL5C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39167166_39167172del, NC_000017.10:g.37323419_37323425del

Select item 148928713817.

rs1489287138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39156711 (GRCh38)
17:37312964 (GRCh37)
Canonical SPDI:: NC_000017.11:39156710:G:A
Gene:: ARL5C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39156711G>A, NC_000017.10:g.37312964G>A

Select item 148912832118.

rs1489128321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39156840 (GRCh38)
17:37313093 (GRCh37)
Canonical SPDI:: NC_000017.11:39156839:C:T
Gene:: ARL5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39156840C>T, NC_000017.10:g.37313093C>T

Select item 148865723419.

rs1488657234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39163858 (GRCh38)
17:37320111 (GRCh37)
Canonical SPDI:: NC_000017.11:39163857:G:A
Gene:: ARL5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.39163858G>A, NC_000017.10:g.37320111G>A, XM_047435963.1:c.-723C>T

Select item 148848911020.

rs1488489110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39159730 (GRCh38)
17:37315983 (GRCh37)
Canonical SPDI:: NC_000017.11:39159729:G:C
Gene:: ARL5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39159730G>C, NC_000017.10:g.37315983G>C

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