SNP Links for Gene (Select 254042) - SNP

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Select item 14915872071.

rs1491587207 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 2:172042531 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:172042531:T:TGTGT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.172042532_172042533insGTGT

Select item 14915682472.

rs1491568247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:171999720 (GRCh38)
2:172864627 (GRCh37)
Canonical SPDI:: NC_000002.12:171999717:AGAG:AG
Gene:: METAP1D (Varview), LOC124905590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.171999718AG[1], NW_025791761.1:g.438768AG[1], NC_000002.11:g.172864625AG[1], XR_007087296.1:n.189CT[1], XR_007069453.1:n.189CT[1]

Select item 14915618923.

rs1491561892 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 2:172042425 (GRCh38)
2:172907410 (GRCh37)
Canonical SPDI:: NC_000002.12:172042425::CGTG
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.172042425_172042426insCGTG, NW_025791761.1:g.481475_481476insCGTG, NC_000002.11:g.172907410_172907411insCGTG

Select item 14915447084.

rs1491544708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:172042539 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:172042539:T:TGT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.172042540_172042541insGT

Select item 14915415515.

rs1491541551 has merged into rs1250864024 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 2:172016332 (GRCh38)
2:172881241 (GRCh37)
Canonical SPDI:: NC_000002.12:172016330:AAA:A,NC_000002.12:172016330:AAA:AAAAA
Gene:: METAP1D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00194/32 (TOMMO)
-=0.04545/26 (NorthernSweden)
HGVS:: NC_000002.12:g.172016332_172016333del, NC_000002.12:g.172016332_172016333dup, NW_025791761.1:g.455389_455390del, NW_025791761.1:g.455389_455390dup, NC_000002.11:g.172881241_172881242del, NC_000002.11:g.172881241_172881242dup

Select item 14915033936.

rs1491503393 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:172042551 (GRCh38)
2:0 (GRCh37)
Canonical SPDI:: NC_000002.12:172042549:TAT:T
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.172042551_172042552del

Select item 14914945707.

rs1491494570 [Homo sapiens]

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

Select item 14914943968.

rs1491494396 has merged into rs201757401 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:172041815 (GRCh38)
2:172906734 (GRCh37)
Canonical SPDI:: NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:172041804:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.102/511 (1000Genomes)
HGVS:: NC_000002.12:g.172041815_172041818del, NC_000002.12:g.172041816_172041818del, NC_000002.12:g.172041817_172041818del, NC_000002.12:g.172041818del, NC_000002.12:g.172041818dup, NC_000002.12:g.172041817_172041818dup, NC_000002.12:g.172041816_172041818dup, NW_025791761.1:g.480875_480878del, NW_025791761.1:g.480876_480878del, NW_025791761.1:g.480877_480878del, NW_025791761.1:g.480878del, NW_025791761.1:g.480878dup, NW_025791761.1:g.480877_480878dup, NW_025791761.1:g.480876_480878dup, NC_000002.11:g.172906734_172906737del, NC_000002.11:g.172906735_172906737del, NC_000002.11:g.172906736_172906737del, NC_000002.11:g.172906737del, NC_000002.11:g.172906737dup, NC_000002.11:g.172906736_172906737dup, NC_000002.11:g.172906735_172906737dup

Select item 14914903449.

rs1491490344 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTAC,GTGC,GTGTGTAC [Show Flanks]
Chromosome:: 2:172042622 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:172042622::GTAC,NC_000002.12:172042622::GTGC,NC_000002.12:172042622::GTGTGTAC
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGC=0./0 (ALFA)
HGVS:: NC_000002.12:g.172042622_172042623insGTAC, NC_000002.12:g.172042622_172042623insGTGC, NC_000002.12:g.172042622_172042623insGTGTGTAC

Select item 149147773310.

rs1491477733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 2:172042611 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:172042611:T:TGT,NC_000002.12:172042611:T:TGTGT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
TGTG=0.00057/14 (GnomAD)
HGVS:: NC_000002.12:g.172042612_172042613insGT, NC_000002.12:g.172042612_172042613insGTGT

Select item 149147068211.

rs1491470682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:172043010 (GRCh38)
2:172907752 (GRCh37)
Canonical SPDI:: NC_000002.12:172043010:A:ACA
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.00007/6 (GnomAD)
AC=0.00018/5 (TOMMO)
HGVS:: NC_000002.12:g.172043011_172043012insCA, NC_000002.11:g.172907752_172907753dup, NW_025791761.1:g.481791_481792dup

Select item 149146889312.

rs1491468893 has merged into rs1230722166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 2:172041725 (GRCh38)
2:172906636 (GRCh37)
Canonical SPDI:: NC_000002.12:172041723:TTTT:T,NC_000002.12:172041723:TTTT:TT,NC_000002.12:172041723:TTTT:TTT,NC_000002.12:172041723:TTTT:TTTTT,NC_000002.12:172041723:TTTT:TTTTTT,NC_000002.12:172041723:TTTT:TTTTTTT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00087/13 (TOMMO)
T=0.00615/3 (NorthernSweden)
HGVS:: NC_000002.12:g.172041725_172041727del, NC_000002.12:g.172041726_172041727del, NC_000002.12:g.172041727del, NC_000002.12:g.172041727dup, NC_000002.12:g.172041726_172041727dup, NC_000002.12:g.172041725_172041727dup, NW_025791761.1:g.480793dup, NW_025791761.1:g.480792_480793del, NW_025791761.1:g.480793del, NW_025791761.1:g.480792_480793dup, NW_025791761.1:g.480791_480793dup, NW_025791761.1:g.480790_480793dup, NC_000002.11:g.172906638dup, NC_000002.11:g.172906637_172906638del, NC_000002.11:g.172906638del, NC_000002.11:g.172906637_172906638dup, NC_000002.11:g.172906636_172906638dup, NC_000002.11:g.172906635_172906638dup

Select item 149145012213.

rs1491450122 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,GT [Show Flanks]
Chromosome:: 2:172042967 (GRCh38)
2:172907707 (GRCh37)
Canonical SPDI:: NC_000002.12:172042967::CA,NC_000002.12:172042967::GT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CA=0.000019/2 (GnomAD)
HGVS:: NC_000002.12:g.172042967_172042968insCA, NC_000002.12:g.172042967_172042968insGT, NC_000002.11:g.172907707_172907708dup, NC_000002.11:g.172907708_172907709insGT, NW_025791761.1:g.481746_481747dup, NW_025791761.1:g.481747_481748insGT

Select item 149143287014.

rs1491432870 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:172010461 (GRCh38)
2:172875368 (GRCh37)
Canonical SPDI:: NC_000002.12:172010460:TA:
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0004/2 (ALFA)
HGVS:: NC_000002.12:g.172010461_172010462del, NW_025791761.1:g.449513_449514del, NC_000002.11:g.172875368_172875369del

Select item 149142559115.

rs1491425591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 2:172041724 (GRCh38)
2:172906636 (GRCh37)
Canonical SPDI:: NC_000002.12:172041724:T:TAT,NC_000002.12:172041724:T:TATAT,NC_000002.12:172041724:T:TATATAT,NC_000002.12:172041724:T:TATATATAT,NC_000002.12:172041724:T:TATATATATAT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.172041725_172041726insAT, NC_000002.12:g.172041725_172041726insATAT, NC_000002.12:g.172041726AT[3], NC_000002.12:g.172041726AT[4], NC_000002.12:g.172041726AT[5], NW_025791761.1:g.480791_480792insAT, NW_025791761.1:g.480791_480792insATAT, NW_025791761.1:g.480792AT[3], NW_025791761.1:g.480792AT[4], NW_025791761.1:g.480792AT[5], NC_000002.11:g.172906636_172906637insAT, NC_000002.11:g.172906636_172906637insATAT, NC_000002.11:g.172906637AT[3], NC_000002.11:g.172906637AT[4], NC_000002.11:g.172906637AT[5]

Select item 149141524516.

rs1491415245 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TATATATATATAT [Show Flanks]
Chromosome:: 2:172016331 (GRCh38)
2:172881241 (GRCh37)
Canonical SPDI:: NC_000002.12:172016331::T,NC_000002.12:172016331::TATATATATATAT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00066/11 (TOMMO)
HGVS:: NC_000002.12:g.172016331_172016332insT, NC_000002.12:g.172016331_172016332insTATATATATATAT, NW_025791761.1:g.455388_455389insT, NW_025791761.1:g.455388_455389insTATATATATATAT, NC_000002.11:g.172881240_172881241insT, NC_000002.11:g.172881240_172881241insTATATATATATAT

Select item 149138489917.

rs1491384899 has merged into rs1553493886 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTATATGTACACATATACGTGTGTGTGTGT,GTGTATATGTGTACACATATACGTGTGTGTGTGT,GTGTGT [Show Flanks]
Chromosome:: 2:172042769 (GRCh38)
2:172907490 (GRCh37)
Canonical SPDI:: NC_000002.12:172042760:GTGTGTGTGT:GTGTGTGT,NC_000002.12:172042760:GTGTGTGTGT:GTGTGTGTGTGT,NC_000002.12:172042760:GTGTGTGTGT:GTGTGTGTGTGTATATGTACACATATACGTGTGTGTGTGT,NC_000002.12:172042760:GTGTGTGTGT:GTGTGTGTGTGTATATGTGTACACATATACGTGTGTGTGTGT,NC_000002.12:172042760:GTGTGTGTGT:GTGTGTGTGTGTGT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.0014/7 (1000Genomes)
HGVS:: NC_000002.12:g.172042761GT[4], NC_000002.12:g.172042761GT[6], NC_000002.12:g.172042761_172042770GT[6]AT[2]GTACACATATACGTGTGTGTGTGT[1], NC_000002.12:g.172042761_172042770GT[6]AT[2]GT[2]AC[2]AT[2]ACGTGTGTGTGTGT[1], NC_000002.12:g.172042761GT[7], NW_025791761.1:g.481547_481554delinsGTGTGTGT, NW_025791761.1:g.481547_481554delinsGTGTGT, NW_025791761.1:g.481547_481554delinsGTGTGTGTGT, NW_025791761.1:g.481547_481554delinsGTGTGTGTGTGTATATGTACACATATACGTGTGTGTGT, NW_025791761.1:g.481547_481554delinsGTGTGTGTGTGTATATGTGTACACATATACGTGTGTGTGT, NW_025791761.1:g.481547_481554delinsGTGTGTGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGTGTGTGTATATGTACACATATACGTGTGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGTGTGTGTATATGTGTACACATATACGTGTGTGTGT, NC_000002.11:g.172907482_172907489delinsGTGTGTGTGTGT

Select item 149138267718.

rs1491382677 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 2:172042641 (GRCh38)
2:1 (GRCh37)
Canonical SPDI:: NC_000002.12:172042638:ATAT:AT,NC_000002.12:172042638:ATAT:ATATAT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00824/150 (GnomAD)
HGVS:: NC_000002.12:g.172042639AT[1], NC_000002.12:g.172042639AT[3]

Select item 149137467219.

rs1491374672 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATAT [Show Flanks]
Chromosome:: 2:172042786 (GRCh38)
2:172907507 (GRCh37)
Canonical SPDI:: NC_000002.12:172042786::AT,NC_000002.12:172042786::ATAT
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.172042786_172042787insAT, NC_000002.12:g.172042786_172042787insATAT, NW_025791761.1:g.481571_481572insAT, NW_025791761.1:g.481571_481572insATAT, NC_000002.11:g.172907506_172907507insAT, NC_000002.11:g.172907506_172907507insATAT

Select item 149136997220.

rs1491369972 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:172034077 (GRCh38)
2:172898980 (GRCh37)
Canonical SPDI:: NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:172034076:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: METAP1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.172034093del, NC_000002.12:g.172034093dup, NC_000002.12:g.172034092_172034093dup, NC_000002.12:g.172034091_172034093dup, NC_000002.12:g.172034090_172034093dup, NC_000002.12:g.172034089_172034093dup, NC_000002.12:g.172034088_172034093dup, NC_000002.12:g.172034087_172034093dup, NC_000002.12:g.172034086_172034093dup, NC_000002.12:g.172034080_172034093dup, NW_025791761.1:g.473158del, NW_025791761.1:g.473158dup, NW_025791761.1:g.473157_473158dup, NW_025791761.1:g.473156_473158dup, NW_025791761.1:g.473155_473158dup, NW_025791761.1:g.473154_473158dup, NW_025791761.1:g.473153_473158dup, NW_025791761.1:g.473152_473158dup, NW_025791761.1:g.473151_473158dup, NW_025791761.1:g.473145_473158dup, NC_000002.11:g.172899001del, NC_000002.11:g.172899001dup, NC_000002.11:g.172899000_172899001dup, NC_000002.11:g.172898999_172899001dup, NC_000002.11:g.172898998_172899001dup, NC_000002.11:g.172898997_172899001dup, NC_000002.11:g.172898996_172899001dup, NC_000002.11:g.172898995_172899001dup, NC_000002.11:g.172898994_172899001dup, NC_000002.11:g.172898988_172899001dup

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