SNP Links for Nucleotide (Select 1140397682) - SNP

Links from Nucleotide

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Select item 14915870211.

rs1491587021 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30600892 (GRCh38)
8:30458409 (GRCh37)
Canonical SPDI:: NC_000008.11:30600891:CA:
Gene:: GTF2E2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30600892_30600893del, NC_000008.10:g.30458409_30458410del, NG_052833.1:g.62349_62350del

Select item 14915768922.

rs1491576892 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:30620239 (GRCh38)
8:30477756 (GRCh37)
Canonical SPDI:: NC_000008.11:30620237:AAA:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00008/3 (GnomAD)
HGVS:: NC_000008.11:g.30620239_30620240del, NC_000008.10:g.30477756_30477757del, NG_052833.1:g.43003_43004del

Select item 14915703133.

rs1491570313 has merged into rs35044873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 8:30605636 (GRCh38)
8:30463153 (GRCh37)
Canonical SPDI:: NC_000008.11:30605625:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:30605625:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:30605625:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:30605625:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:30605625:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.291134/1458 (1000Genomes)
-=0.294076/77839 (TOPMED)
-=0.302802/1167 (ALSPAC)
-=0.308522/1144 (TWINSUK)
-=0.346667/208 (NorthernSweden)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000008.11:g.30605636_30605638del, NC_000008.11:g.30605637_30605638del, NC_000008.11:g.30605638del, NC_000008.11:g.30605638dup, NC_000008.11:g.30605633_30605638dup, NC_000008.10:g.30463153_30463155del, NC_000008.10:g.30463154_30463155del, NC_000008.10:g.30463155del, NC_000008.10:g.30463155dup, NC_000008.10:g.30463150_30463155dup, NG_052833.1:g.57614_57616del, NG_052833.1:g.57615_57616del, NG_052833.1:g.57616del, NG_052833.1:g.57616dup, NG_052833.1:g.57611_57616dup

Select item 14915374124.

rs1491537412 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:30644649 (GRCh38)
8:30502167 (GRCh37)
Canonical SPDI:: NC_000008.11:30644649:TTTTTT:TTTTTTT
Gene:: GTF2E2 (Varview), SMIM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.30644655dup, NC_000008.10:g.30502172dup, NG_052833.1:g.18592dup

Select item 14915342915.

rs1491534291 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:30627726 (GRCh38)
8:30485243 (GRCh37)
Canonical SPDI:: NC_000008.11:30627725:CT:
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.0001/14 (GnomAD)
-=0.000113/30 (TOPMED)
-=0.000937/5 (1000Genomes)
HGVS:: NC_000008.11:g.30627726_30627727del, NC_000008.10:g.30485243_30485244del, NG_052833.1:g.35515_35516del

Select item 14915288516.

rs1491528851 has merged into rs60625075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:30587481 (GRCh38)
8:30444998 (GRCh37)
Canonical SPDI:: NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30587470:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1332/667 (1000Genomes)
HGVS:: NC_000008.11:g.30587481_30587483del, NC_000008.11:g.30587482_30587483del, NC_000008.11:g.30587483del, NC_000008.11:g.30587483dup, NC_000008.11:g.30587482_30587483dup, NC_000008.11:g.30587481_30587483dup, NC_000008.10:g.30444998_30445000del, NC_000008.10:g.30444999_30445000del, NC_000008.10:g.30445000del, NC_000008.10:g.30445000dup, NC_000008.10:g.30444999_30445000dup, NC_000008.10:g.30444998_30445000dup, NG_052833.1:g.75769_75771del, NG_052833.1:g.75770_75771del, NG_052833.1:g.75771del, NG_052833.1:g.75771dup, NG_052833.1:g.75770_75771dup, NG_052833.1:g.75769_75771dup

Select item 14915229077.

rs1491522907 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:30636781 (GRCh38)
8:30494298 (GRCh37)
Canonical SPDI:: NC_000008.11:30636775:GAGAGAG:GAGAG
Gene:: GTF2E2 (Varview), SMIM18 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30636777AG[2], NC_000008.10:g.30494294AG[2], NG_052833.1:g.26461TC[2]

Select item 14915116188.

rs1491511618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTA [Show Flanks]
Chromosome:: 8:30642747 (GRCh38)
8:30500265 (GRCh37)
Canonical SPDI:: NC_000008.11:30642747:AGTTA:AGTTAGTTA
Gene:: GTF2E2 (Varview), SMIM18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGTTAGTTA=0./0 (ALFA)
AGTT=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.30642749_30642752dup, NC_000008.10:g.30500266_30500269dup, NG_052833.1:g.20491_20494dup, XM_024447050.2:c.-1853_-1850dup

Select item 14915108009.

rs1491510800 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:30620238 (GRCh38)
8:30477756 (GRCh37)
Canonical SPDI:: NC_000008.11:30620238::C
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
C=0.00009/4 (GnomAD)
HGVS:: NC_000008.11:g.30620238_30620239insC, NC_000008.10:g.30477755_30477756insC, NG_052833.1:g.43003_43004insG

Select item 149148109410.

rs1491481094 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:30620259 (GRCh38)
8:30477776 (GRCh37)
Canonical SPDI:: NC_000008.11:30620257:AAA:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000429/60 (GnomAD)
-=0.001093/7 (1000Genomes)
HGVS:: NC_000008.11:g.30620259_30620260del, NC_000008.10:g.30477776_30477777del, NG_052833.1:g.42983_42984del

Select item 149146798711.

rs1491467987 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCAT [Show Flanks]
Chromosome:: 8:30661165 (GRCh38)
8:30518683 (GRCh37)
Canonical SPDI:: NC_000008.11:30661165::TCAT
Validated:: by frequency,by alfa
MAF:: TCAT=0./0 (ALFA)
TCAT=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.30661165_30661166insTCAT, NC_000008.10:g.30518682_30518683insTCAT, NG_052833.1:g.2076_2077insATGA

Select item 149141873612.

rs1491418736 has merged into rs753208919 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30609275 (GRCh38)
8:30466792 (GRCh37)
Canonical SPDI:: NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30609265:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.30609275_30609280del, NC_000008.11:g.30609278_30609280del, NC_000008.11:g.30609279_30609280del, NC_000008.11:g.30609280del, NC_000008.11:g.30609280dup, NC_000008.11:g.30609279_30609280dup, NC_000008.11:g.30609278_30609280dup, NC_000008.11:g.30609275_30609280dup, NC_000008.11:g.30609274_30609280dup, NC_000008.11:g.30609273_30609280dup, NC_000008.10:g.30466792_30466797del, NC_000008.10:g.30466795_30466797del, NC_000008.10:g.30466796_30466797del, NC_000008.10:g.30466797del, NC_000008.10:g.30466797dup, NC_000008.10:g.30466796_30466797dup, NC_000008.10:g.30466795_30466797dup, NC_000008.10:g.30466792_30466797dup, NC_000008.10:g.30466791_30466797dup, NC_000008.10:g.30466790_30466797dup, NG_052833.1:g.53971_53976del, NG_052833.1:g.53974_53976del, NG_052833.1:g.53975_53976del, NG_052833.1:g.53976del, NG_052833.1:g.53976dup, NG_052833.1:g.53975_53976dup, NG_052833.1:g.53974_53976dup, NG_052833.1:g.53971_53976dup, NG_052833.1:g.53970_53976dup, NG_052833.1:g.53969_53976dup

Select item 149136433713.

rs1491364337 has merged into rs138891648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 8:30661142 (GRCh38)
8:30518659 (GRCh37)
Canonical SPDI:: NC_000008.11:30661132:CACACACACACACACAC:CACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000008.11:30661132:CACACACACACACACAC:CACACACACACACACACACACACACACACACAC
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.30661134AC[4], NC_000008.11:g.30661134AC[6], NC_000008.11:g.30661134AC[7], NC_000008.11:g.30661134AC[9], NC_000008.11:g.30661134AC[10], NC_000008.11:g.30661134AC[11], NC_000008.11:g.30661134AC[12], NC_000008.11:g.30661134AC[13], NC_000008.11:g.30661134AC[14], NC_000008.11:g.30661134AC[15], NC_000008.11:g.30661134AC[16], NC_000008.10:g.30518651AC[4], NC_000008.10:g.30518651AC[6], NC_000008.10:g.30518651AC[7], NC_000008.10:g.30518651AC[9], NC_000008.10:g.30518651AC[10], NC_000008.10:g.30518651AC[11], NC_000008.10:g.30518651AC[12], NC_000008.10:g.30518651AC[13], NC_000008.10:g.30518651AC[14], NC_000008.10:g.30518651AC[15], NC_000008.10:g.30518651AC[16], NG_052833.1:g.2094TG[4], NG_052833.1:g.2094TG[6], NG_052833.1:g.2094TG[7], NG_052833.1:g.2094TG[9], NG_052833.1:g.2094TG[10], NG_052833.1:g.2094TG[11], NG_052833.1:g.2094TG[12], NG_052833.1:g.2094TG[13], NG_052833.1:g.2094TG[14], NG_052833.1:g.2094TG[15], NG_052833.1:g.2094TG[16]

Select item 149133039114.

rs1491330391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30609265 (GRCh38)
8:30466782 (GRCh37)
Canonical SPDI:: NC_000008.11:30609264:CA:
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000008.11:g.30609265_30609266del, NC_000008.10:g.30466782_30466783del, NG_052833.1:g.53976_53977del

Select item 149132664215.

rs1491326642 has merged into rs56762565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30646988 (GRCh38)
8:30504505 (GRCh37)
Canonical SPDI:: NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30646979:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.30646988_30647005del, NC_000008.11:g.30646989_30647005del, NC_000008.11:g.30646990_30647005del, NC_000008.11:g.30646991_30647005del, NC_000008.11:g.30646993_30647005del, NC_000008.11:g.30646994_30647005del, NC_000008.11:g.30646995_30647005del, NC_000008.11:g.30646996_30647005del, NC_000008.11:g.30646997_30647005del, NC_000008.11:g.30646998_30647005del, NC_000008.11:g.30646999_30647005del, NC_000008.11:g.30647000_30647005del, NC_000008.11:g.30647001_30647005del, NC_000008.11:g.30647002_30647005del, NC_000008.11:g.30647003_30647005del, NC_000008.11:g.30647004_30647005del, NC_000008.11:g.30647005del, NC_000008.11:g.30647005dup, NC_000008.11:g.30647004_30647005dup, NC_000008.11:g.30647003_30647005dup, NC_000008.11:g.30647002_30647005dup, NC_000008.11:g.30647001_30647005dup, NC_000008.11:g.30647000_30647005dup, NC_000008.11:g.30646998_30647005dup, NC_000008.11:g.30646997_30647005dup, NC_000008.11:g.30646996_30647005dup, NC_000008.11:g.30646995_30647005dup, NC_000008.11:g.30646989_30647005dup, NC_000008.11:g.30646987_30647005dup, NC_000008.10:g.30504505_30504522del, NC_000008.10:g.30504506_30504522del, NC_000008.10:g.30504507_30504522del, NC_000008.10:g.30504508_30504522del, NC_000008.10:g.30504510_30504522del, NC_000008.10:g.30504511_30504522del, NC_000008.10:g.30504512_30504522del, NC_000008.10:g.30504513_30504522del, NC_000008.10:g.30504514_30504522del, NC_000008.10:g.30504515_30504522del, NC_000008.10:g.30504516_30504522del, NC_000008.10:g.30504517_30504522del, NC_000008.10:g.30504518_30504522del, NC_000008.10:g.30504519_30504522del, NC_000008.10:g.30504520_30504522del, NC_000008.10:g.30504521_30504522del, NC_000008.10:g.30504522del, NC_000008.10:g.30504522dup, NC_000008.10:g.30504521_30504522dup, NC_000008.10:g.30504520_30504522dup, NC_000008.10:g.30504519_30504522dup, NC_000008.10:g.30504518_30504522dup, NC_000008.10:g.30504517_30504522dup, NC_000008.10:g.30504515_30504522dup, NC_000008.10:g.30504514_30504522dup, NC_000008.10:g.30504513_30504522dup, NC_000008.10:g.30504512_30504522dup, NC_000008.10:g.30504506_30504522dup, NC_000008.10:g.30504504_30504522dup, NG_052833.1:g.16245_16262del, NG_052833.1:g.16246_16262del, NG_052833.1:g.16247_16262del, NG_052833.1:g.16248_16262del, NG_052833.1:g.16250_16262del, NG_052833.1:g.16251_16262del, NG_052833.1:g.16252_16262del, NG_052833.1:g.16253_16262del, NG_052833.1:g.16254_16262del, NG_052833.1:g.16255_16262del, NG_052833.1:g.16256_16262del, NG_052833.1:g.16257_16262del, NG_052833.1:g.16258_16262del, NG_052833.1:g.16259_16262del, NG_052833.1:g.16260_16262del, NG_052833.1:g.16261_16262del, NG_052833.1:g.16262del, NG_052833.1:g.16262dup, NG_052833.1:g.16261_16262dup, NG_052833.1:g.16260_16262dup, NG_052833.1:g.16259_16262dup, NG_052833.1:g.16258_16262dup, NG_052833.1:g.16257_16262dup, NG_052833.1:g.16255_16262dup, NG_052833.1:g.16254_16262dup, NG_052833.1:g.16253_16262dup, NG_052833.1:g.16252_16262dup, NG_052833.1:g.16246_16262dup, NG_052833.1:g.16244_16262dup

Select item 149130149816.

rs1491301498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:30636776 (GRCh38)
8:30494294 (GRCh37)
Canonical SPDI:: NC_000008.11:30636776:A:AA
Gene:: GTF2E2 (Varview), SMIM18 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.30636777dup, NC_000008.10:g.30494294dup, NG_052833.1:g.26465dup

Select item 149121871517.

rs1491218715 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:30605625 (GRCh38)
8:30463142 (GRCh37)
Canonical SPDI:: NC_000008.11:30605624:AT:
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000008.11:g.30605625_30605626del, NC_000008.10:g.30463142_30463143del, NG_052833.1:g.57616_57617del

Select item 149116464818.

rs1491164648 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30646979 (GRCh38)
8:30504496 (GRCh37)
Canonical SPDI:: NC_000008.11:30646978:CA:
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.30646979_30646980del, NC_000008.10:g.30504496_30504497del, NG_052833.1:g.16262_16263del

Select item 149112366619.

rs1491123666 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:30642747 (GRCh38)
8:30500264 (GRCh37)
Canonical SPDI:: NC_000008.11:30642746:CA:
Gene:: GTF2E2 (Varview), SMIM18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.30642747_30642748del, NC_000008.10:g.30500264_30500265del, NG_052833.1:g.20494_20495del, XM_024447050.2:c.-1855_-1854del

Select item 149107042020.

rs1491070420 has merged into rs34094808 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:30610452 (GRCh38)
8:30467969 (GRCh37)
Canonical SPDI:: NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:30610443:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.0467/24 (NorthernSweden)
HGVS:: NC_000008.11:g.30610452_30610462del, NC_000008.11:g.30610453_30610462del, NC_000008.11:g.30610458_30610462del, NC_000008.11:g.30610459_30610462del, NC_000008.11:g.30610460_30610462del, NC_000008.11:g.30610461_30610462del, NC_000008.11:g.30610462del, NC_000008.11:g.30610462dup, NC_000008.11:g.30610461_30610462dup, NC_000008.11:g.30610460_30610462dup, NC_000008.11:g.30610459_30610462dup, NC_000008.10:g.30467969_30467979del, NC_000008.10:g.30467970_30467979del, NC_000008.10:g.30467975_30467979del, NC_000008.10:g.30467976_30467979del, NC_000008.10:g.30467977_30467979del, NC_000008.10:g.30467978_30467979del, NC_000008.10:g.30467979del, NC_000008.10:g.30467979dup, NC_000008.10:g.30467978_30467979dup, NC_000008.10:g.30467977_30467979dup, NC_000008.10:g.30467976_30467979dup, NG_052833.1:g.52788_52798del, NG_052833.1:g.52789_52798del, NG_052833.1:g.52794_52798del, NG_052833.1:g.52795_52798del, NG_052833.1:g.52796_52798del, NG_052833.1:g.52797_52798del, NG_052833.1:g.52798del, NG_052833.1:g.52798dup, NG_052833.1:g.52797_52798dup, NG_052833.1:g.52796_52798dup, NG_052833.1:g.52795_52798dup

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