SNP Links for Nucleotide (Select 985801729) - SNP

Links from Nucleotide

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Select item 14915775581.

rs1491577558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:57493626 (GRCh38)
12:57887409 (GRCh37)
Canonical SPDI:: NC_000012.12:57493619:ATATATAT:ATATAT
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.00084/10 (ALFA)
-=0.00004/1 (GnomAD)
-=0.0009/9 (TOMMO)
HGVS:: NC_000012.12:g.57493620AT[3], NC_000012.11:g.57887403AT[3], NG_023205.2:g.188AT[3], NG_034077.1:g.10668AT[3]

Select item 14915640232.

rs1491564023 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTAATATATAATATACAATATATATTATATATTATATATA [Show Flanks]
Chromosome:: 12:57493620 (GRCh38)
12:57887404 (GRCh37)
Canonical SPDI:: NC_000012.12:57493620:TATATATTATATATAATTAATATATAATATACAATATATATTATATATTATATATA:TATATATTATATATAATTAATATATAATATACAATATATATTATATATTATATATAATTAATATATAATATACAATATATATTATATATTATATATA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TATATATTATATATAATTAATATATAATATACAATATATAT=0.0007/6 (TOMMO)
HGVS:: NC_000012.12:g.57493636_57493676dup, NC_000012.11:g.57887419_57887459dup, NG_023205.2:g.154_194dup, NG_034077.1:g.10684_10724dup

Select item 14915014083.

rs1491501408 has merged into rs1491425326 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:57493795 (GRCh38)
12:57887578 (GRCh37)
Canonical SPDI:: NC_000012.12:57493789:TATATAT:TATAT,NC_000012.12:57493789:TATATAT:TATATATAT
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATAT=0./0 (ALFA)
TA=0.00007/1 (TOMMO)
HGVS:: NC_000012.12:g.57493791AT[2], NC_000012.12:g.57493791AT[4], NC_000012.11:g.57887574AT[2], NC_000012.11:g.57887574AT[4], NG_023205.2:g.20TA[2], NG_023205.2:g.20TA[4], NG_034077.1:g.10839AT[2], NG_034077.1:g.10839AT[4]

Select item 14914623554.

rs1491462355 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:57493438 (GRCh38)
12:57887221 (GRCh37)
Canonical SPDI:: NC_000012.12:57493437:TT:
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493438_57493439del, NC_000012.11:g.57887221_57887222del, NG_023205.2:g.376_377del, NG_034077.1:g.10486_10487del

Select item 14914253265.

rs1491425326 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:57493795 (GRCh38)
12:57887578 (GRCh37)
Canonical SPDI:: NC_000012.12:57493789:TATATAT:TATAT,NC_000012.12:57493789:TATATAT:TATATATAT
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATAT=0./0 (ALFA)
TA=0.00007/1 (TOMMO)
HGVS:: NC_000012.12:g.57493791AT[2], NC_000012.12:g.57493791AT[4], NC_000012.11:g.57887574AT[2], NC_000012.11:g.57887574AT[4], NG_023205.2:g.20TA[2], NG_023205.2:g.20TA[4], NG_034077.1:g.10839AT[2], NG_034077.1:g.10839AT[4]

Select item 14914046726.

rs1491404672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 12:57493771 (GRCh38)
12:57887554 (GRCh37)
Canonical SPDI:: NC_000012.12:57493766:TATATATA:TATA,NC_000012.12:57493766:TATATATA:TATATA,NC_000012.12:57493766:TATATATA:TATATATATA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.0073/53 (TOMMO)
-=0.01011/11 (GnomAD)
HGVS:: NC_000012.12:g.57493767TA[2], NC_000012.12:g.57493767TA[3], NC_000012.12:g.57493767TA[5], NC_000012.11:g.57887550TA[2], NC_000012.11:g.57887550TA[3], NC_000012.11:g.57887550TA[5], NG_023205.2:g.41TA[2], NG_023205.2:g.41TA[3], NG_023205.2:g.41TA[5], NG_034077.1:g.10815TA[2], NG_034077.1:g.10815TA[3], NG_034077.1:g.10815TA[5]

Select item 14913969877.

rs1491396987 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:57487850 (GRCh38)
12:57881633 (GRCh37)
Canonical SPDI:: NC_000012.12:57487847:CACA:CA
Gene:: MARS1 (Varview), ARHGAP9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.00025/3 (ALFA)
HGVS:: NC_000012.12:g.57487848CA[1], NC_000012.11:g.57881631CA[1], NG_023205.2:g.5964TG[1], NG_034077.1:g.4896CA[1]

Select item 14913756738.

rs1491375673 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:57493729 (GRCh38)
12:57887512 (GRCh37)
Canonical SPDI:: NC_000012.12:57493728:TT:
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493729_57493730del, NC_000012.11:g.57887512_57887513del, NG_023205.2:g.85_86del, NG_034077.1:g.10777_10778del

Select item 14913639429.

rs1491363942 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAT,TT [Show Flanks]
Chromosome:: 12:57493561 (GRCh38)
12:57887345 (GRCh37)
Canonical SPDI:: NC_000012.12:57493561::TAAT,NC_000012.12:57493561::TT
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TT=0.00052/1 (GnomAD)
TT=0.00958/54 (TOMMO)
HGVS:: NC_000012.12:g.57493561_57493562insTAAT, NC_000012.12:g.57493561_57493562insTT, NC_000012.11:g.57887344_57887345insTAAT, NC_000012.11:g.57887344_57887345insTT, NG_023205.2:g.253_254insATTA, NG_023205.2:g.253_254insAA, NG_034077.1:g.10609_10610insTAAT, NG_034077.1:g.10609_10610insTT

Select item 149132996310.

rs1491329963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA,ATATAATA [Show Flanks]
Chromosome:: 12:57493790 (GRCh38)
12:57887574 (GRCh37)
Canonical SPDI:: NC_000012.12:57493790:ATA:ATAATA,NC_000012.12:57493790:ATA:ATAATATAATA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATATAATA=0./0 (ALFA)
ATA=0.0373/69 (GnomAD)
HGVS:: NC_000012.12:g.57493791_57493793dup, NC_000012.12:g.57493791_57493793ATAAT[2]A[1], NC_000012.11:g.57887574_57887576dup, NC_000012.11:g.57887574_57887576ATAAT[2]A[1], NG_023205.2:g.22_24dup, NG_023205.2:g.22_24TATTA[2]T[1], NG_034077.1:g.10839_10841dup, NG_034077.1:g.10839_10841ATAAT[2]A[1]

Select item 149132095111.

rs1491320951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 12:57487848 (GRCh38)
12:57881632 (GRCh37)
Canonical SPDI:: NC_000012.12:57487848:A:AA,NC_000012.12:57487848:A:AAA
Gene:: MARS1 (Varview), ARHGAP9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.57487849dup, NC_000012.12:g.57487849_57487850insAA, NC_000012.11:g.57881632dup, NC_000012.11:g.57881632_57881633insAA, NG_023205.2:g.5966dup, NG_023205.2:g.5966_5967insTT, NG_034077.1:g.4897dup, NG_034077.1:g.4897_4898insAA

Select item 149125893412.

rs1491258934 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AATATAA,AATATAAAA,AATATAATA,AATATAATATAA,AATATAATATATAA,AATATATAA,AATATATATAA,G,GA [Show Flanks]
Chromosome:: 12:57493438 (GRCh38)
12:57887222 (GRCh37)
Canonical SPDI:: NC_000012.12:57493438::AA,NC_000012.12:57493438::AATATAA,NC_000012.12:57493438::AATATAAAA,NC_000012.12:57493438::AATATAATA,NC_000012.12:57493438::AATATAATATAA,NC_000012.12:57493438::AATATAATATATAA,NC_000012.12:57493438::AATATATAA,NC_000012.12:57493438::AATATATATAA,NC_000012.12:57493438::G,NC_000012.12:57493438::GA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATATAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493438_57493439insAA, NC_000012.12:g.57493438_57493439insAATATAA, NC_000012.12:g.57493438_57493439insAATATAAAA, NC_000012.12:g.57493438_57493439insAATATAATA, NC_000012.12:g.57493438_57493439insAATATAATATAA, NC_000012.12:g.57493438_57493439insAATATAATATATAA, NC_000012.12:g.57493438_57493439insAATATATAA, NC_000012.12:g.57493438_57493439insAATATATATAA, NC_000012.12:g.57493438_57493439insG, NC_000012.12:g.57493438_57493439insGA, NC_000012.11:g.57887221_57887222insAA, NC_000012.11:g.57887221_57887222insAATATAA, NC_000012.11:g.57887221_57887222insAATATAAAA, NC_000012.11:g.57887221_57887222insAATATAATA, NC_000012.11:g.57887221_57887222insAATATAATATAA, NC_000012.11:g.57887221_57887222insAATATAATATATAA, NC_000012.11:g.57887221_57887222insAATATATAA, NC_000012.11:g.57887221_57887222insAATATATATAA, NC_000012.11:g.57887221_57887222insG, NC_000012.11:g.57887221_57887222insGA, NG_023205.2:g.376_377insTT, NG_023205.2:g.376_377insTTATATT, NG_023205.2:g.376_377insTTTTATATT, NG_023205.2:g.376_377insTATTATATT, NG_023205.2:g.376_377insTTATATTATATT, NG_023205.2:g.376_377insTTATATATTATATT, NG_023205.2:g.376_377insTTATATATT, NG_023205.2:g.376_377insTTATATATATT, NG_023205.2:g.376_377insC, NG_023205.2:g.376_377insTC, NG_034077.1:g.10486_10487insAA, NG_034077.1:g.10486_10487insAATATAA, NG_034077.1:g.10486_10487insAATATAAAA, NG_034077.1:g.10486_10487insAATATAATA, NG_034077.1:g.10486_10487insAATATAATATAA, NG_034077.1:g.10486_10487insAATATAATATATAA, NG_034077.1:g.10486_10487insAATATATAA, NG_034077.1:g.10486_10487insAATATATATAA, NG_034077.1:g.10486_10487insG, NG_034077.1:g.10486_10487insGA

Select item 149123079513.

rs1491230795 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AC [Show Flanks]
Chromosome:: 12:57493417 (GRCh38)
12:57887201 (GRCh37)
Canonical SPDI:: NC_000012.12:57493417::A,NC_000012.12:57493417::AA,NC_000012.12:57493417::AC
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
A=0.00016/3 (GnomAD)
HGVS:: NC_000012.12:g.57493417_57493418insA, NC_000012.12:g.57493417_57493418insAA, NC_000012.12:g.57493417_57493418insAC, NC_000012.11:g.57887200_57887201insA, NC_000012.11:g.57887200_57887201insAA, NC_000012.11:g.57887200_57887201insAC, NG_023205.2:g.397_398insT, NG_023205.2:g.397_398insTT, NG_023205.2:g.397_398insGT, NG_034077.1:g.10465_10466insA, NG_034077.1:g.10465_10466insAA, NG_034077.1:g.10465_10466insAC

Select item 149121649014.

rs1491216490 has merged into rs1185258237 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 12:57492716 (GRCh38)
12:57886499 (GRCh37)
Canonical SPDI:: NC_000012.12:57492714:AGA:A,NC_000012.12:57492714:AGA:AGAGA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000194/25 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.57492716_57492717del, NC_000012.12:g.57492716_57492717dup, NC_000012.11:g.57886499_57886500del, NC_000012.11:g.57886499_57886500dup, NG_023205.2:g.1099_1100del, NG_023205.2:g.1099_1100dup, NG_034077.1:g.9764_9765del, NG_034077.1:g.9764_9765dup

Select item 149121221015.

rs1491212210 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,ATAA,ATAATACATATTATATATTATAATATATTATATATTATAA,ATATTATATATAATACATATTATATATTATAATATATTATATATTATAA,ATATTATATTATATATATTA,ATTA,ATTATAA,ATTATAATA [Show Flanks]
Chromosome:: 12:57493729 (GRCh38)
12:57887513 (GRCh37)
Canonical SPDI:: NC_000012.12:57493729::AA,NC_000012.12:57493729::ATAA,NC_000012.12:57493729::ATAATACATATTATATATTATAATATATTATATATTATAA,NC_000012.12:57493729::ATATTATATATAATACATATTATATATTATAATATATTATATATTATAA,NC_000012.12:57493729::ATATTATATTATATATATTA,NC_000012.12:57493729::ATTA,NC_000012.12:57493729::ATTATAA,NC_000012.12:57493729::ATTATAATA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493729_57493730insAA, NC_000012.12:g.57493729_57493730insATAA, NC_000012.12:g.57493729_57493730insATAATACATATTATATATTATAATATATTATATATTATAA, NC_000012.12:g.57493729_57493730insATATTATATATAATACATATTATATATTATAATATATTATATATTATAA, NC_000012.12:g.57493729_57493730insATATTATATTATATATATTA, NC_000012.12:g.57493729_57493730insATTA, NC_000012.12:g.57493729_57493730insATTATAA, NC_000012.12:g.57493729_57493730insATTATAATA, NC_000012.11:g.57887512_57887513insAA, NC_000012.11:g.57887512_57887513insATAA, NC_000012.11:g.57887512_57887513insATAATACATATTATATATTATAATATATTATATATTATAA, NC_000012.11:g.57887512_57887513insATATTATATATAATACATATTATATATTATAATATATTATATATTATAA, NC_000012.11:g.57887512_57887513insATATTATATTATATATATTA, NC_000012.11:g.57887512_57887513insATTA, NC_000012.11:g.57887512_57887513insATTATAA, NC_000012.11:g.57887512_57887513insATTATAATA, NG_023205.2:g.85_86insTT, NG_023205.2:g.85_86insTTAT, NG_023205.2:g.85_86insTTATAATATATAATATATTATAATATATAATATGTATTAT, NG_023205.2:g.85_86insTTATAATATATAATATATTATAATATATAATATGTATTATATATAATAT, NG_023205.2:g.85_86insTAATATATATAATATAATAT, NG_023205.2:g.85_86insTAAT, NG_023205.2:g.85_86insTTATAAT, NG_023205.2:g.85_86insTATTATAAT, NG_034077.1:g.10777_10778insAA, NG_034077.1:g.10777_10778insATAA, NG_034077.1:g.10777_10778insATAATACATATTATATATTATAATATATTATATATTATAA, NG_034077.1:g.10777_10778insATATTATATATAATACATATTATATATTATAATATATTATATATTATAA, NG_034077.1:g.10777_10778insATATTATATTATATATATTA, NG_034077.1:g.10777_10778insATTA, NG_034077.1:g.10777_10778insATTATAA, NG_034077.1:g.10777_10778insATTATAATA

Select item 149118429016.

rs1491184290 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 12:57493767 (GRCh38)
12:57887551 (GRCh37)
Canonical SPDI:: NC_000012.12:57493767:ATA:ATAATA
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAATA=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493768_57493770dup, NC_000012.11:g.57887551_57887553dup, NG_023205.2:g.45_47dup, NG_034077.1:g.10816_10818dup

Select item 149116748817.

rs1491167488 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:57493789 (GRCh38)
12:57887572 (GRCh37)
Canonical SPDI:: NC_000012.12:57493788:TT:
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0014/15 (TOMMO)
-=0.00299/6 (GnomAD)
HGVS:: NC_000012.12:g.57493789_57493790del, NC_000012.11:g.57887572_57887573del, NG_023205.2:g.25_26del, NG_034077.1:g.10837_10838del

Select item 149114002418.

rs1491140024 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:57493417 (GRCh38)
12:57887200 (GRCh37)
Canonical SPDI:: NC_000012.12:57493416:TT:
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493417_57493418del, NC_000012.11:g.57887200_57887201del, NG_023205.2:g.397_398del, NG_034077.1:g.10465_10466del

Select item 149109099519.

rs1491090995 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:57493561 (GRCh38)
12:57887344 (GRCh37)
Canonical SPDI:: NC_000012.12:57493560:AA:
Gene:: MARS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.57493561_57493562del, NC_000012.11:g.57887344_57887345del, NG_023205.2:g.253_254del, NG_034077.1:g.10609_10610del

Select item 149107360320.

rs1491073603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:57476821 (GRCh38)
12:57870605 (GRCh37)
Canonical SPDI:: NC_000012.12:57476821:A:AA
Gene:: ARHGAP9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57476822dup, NC_000012.11:g.57870605dup, NG_023205.2:g.16993dup, NM_001319851.2:c.-198dup, NM_001319851.1:c.-198dup

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