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Select item 14913109981.

rs1491310998 has merged into rs10632625 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:19143207 (GRCh38)
22:19130720 (GRCh37)
Canonical SPDI:: NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19143202:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
A=0.260982/1307 (1000Genomes)
HGVS:: NC_000022.11:g.19143207_19143220del, NC_000022.11:g.19143209_19143220del, NC_000022.11:g.19143211_19143220del, NC_000022.11:g.19143212_19143220del, NC_000022.11:g.19143213_19143220del, NC_000022.11:g.19143214_19143220del, NC_000022.11:g.19143215_19143220del, NC_000022.11:g.19143216_19143220del, NC_000022.11:g.19143218_19143220del, NC_000022.11:g.19143219_19143220del, NC_000022.11:g.19143220del, NC_000022.11:g.19143220dup, NC_000022.11:g.19143219_19143220dup, NC_000022.11:g.19143218_19143220dup, NC_000022.11:g.19143217_19143220dup, NC_000022.11:g.19143216_19143220dup, NC_000022.11:g.19143214_19143220dup, NC_000022.11:g.19143213_19143220dup, NC_000022.11:g.19143211_19143220dup, NC_000022.10:g.19130720_19130733del, NC_000022.10:g.19130722_19130733del, NC_000022.10:g.19130724_19130733del, NC_000022.10:g.19130725_19130733del, NC_000022.10:g.19130726_19130733del, NC_000022.10:g.19130727_19130733del, NC_000022.10:g.19130728_19130733del, NC_000022.10:g.19130729_19130733del, NC_000022.10:g.19130731_19130733del, NC_000022.10:g.19130732_19130733del, NC_000022.10:g.19130733del, NC_000022.10:g.19130733dup, NC_000022.10:g.19130732_19130733dup, NC_000022.10:g.19130731_19130733dup, NC_000022.10:g.19130730_19130733dup, NC_000022.10:g.19130729_19130733dup, NC_000022.10:g.19130727_19130733dup, NC_000022.10:g.19130726_19130733dup, NC_000022.10:g.19130724_19130733dup, NG_008320.1:g.6462_6475del, NG_008320.1:g.6464_6475del, NG_008320.1:g.6466_6475del, NG_008320.1:g.6467_6475del, NG_008320.1:g.6468_6475del, NG_008320.1:g.6469_6475del, NG_008320.1:g.6470_6475del, NG_008320.1:g.6471_6475del, NG_008320.1:g.6473_6475del, NG_008320.1:g.6474_6475del, NG_008320.1:g.6475del, NG_008320.1:g.6475dup, NG_008320.1:g.6474_6475dup, NG_008320.1:g.6473_6475dup, NG_008320.1:g.6472_6475dup, NG_008320.1:g.6471_6475dup, NG_008320.1:g.6469_6475dup, NG_008320.1:g.6468_6475dup, NG_008320.1:g.6466_6475dup

Select item 14909989542.

rs1490998954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19143724 (GRCh38)
22:19131237 (GRCh37)
Canonical SPDI:: NC_000022.11:19143723:C:T
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000076/20 (TOPMED)
T=0.000107/15 (GnomAD)
HGVS:: NC_000022.11:g.19143724C>T, NC_000022.10:g.19131237C>T, NG_008320.1:g.5954G>A

Select item 14906831123.

rs1490683112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19137648 (GRCh38)
22:19125161 (GRCh37)
Canonical SPDI:: NC_000022.11:19137647:C:G,NC_000022.11:19137647:C:T
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.19137648C>G, NC_000022.11:g.19137648C>T, NC_000022.10:g.19125161C>G, NC_000022.10:g.19125161C>T, NG_008320.1:g.12030G>C, NG_008320.1:g.12030G>A

Select item 14902178984.

rs1490217898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19140916 (GRCh38)
22:19128429 (GRCh37)
Canonical SPDI:: NC_000022.11:19140915:T:C
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19140916T>C, NC_000022.10:g.19128429T>C, NG_008320.1:g.8762A>G

Select item 14901168915.

rs1490116891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19135466 (GRCh38)
22:19122979 (GRCh37)
Canonical SPDI:: NC_000022.11:19135465:C:T
Gene:: ESS2 (Varview), LOC112268297 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.19135466C>T, NC_000022.10:g.19122979C>T, NG_008320.1:g.14212G>A

Select item 14897642986.

rs1489764298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19143455 (GRCh38)
22:19130968 (GRCh37)
Canonical SPDI:: NC_000022.11:19143454:C:A
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19143455C>A, NC_000022.10:g.19130968C>A, NG_008320.1:g.6223G>T

Select item 14897058367.

rs1489705836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19135798 (GRCh38)
22:19123311 (GRCh37)
Canonical SPDI:: NC_000022.11:19135797:T:C,NC_000022.11:19135797:T:G
Gene:: ESS2 (Varview), LOC112268297 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000106/3 (TOMMO)
C=0.000223/1 (Estonian)
G=0.001638/3 (Korea1K)
HGVS:: NC_000022.11:g.19135798T>C, NC_000022.11:g.19135798T>G, NC_000022.10:g.19123311T>C, NC_000022.10:g.19123311T>G, NG_008320.1:g.13880A>G, NG_008320.1:g.13880A>C

Select item 14896636528.

rs1489663652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:19141867 (GRCh38)
22:19129380 (GRCh37)
Canonical SPDI:: NC_000022.11:19141866:T:G
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000057/15 (TOPMED)
HGVS:: NC_000022.11:g.19141867T>G, NC_000022.10:g.19129380T>G, NG_008320.1:g.7811A>C

Select item 14896534289.

rs1489653428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:19133657 (GRCh38)
22:19121170 (GRCh37)
Canonical SPDI:: NC_000022.11:19133656:A:C
Gene:: ESS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.19133657A>C, NC_000022.10:g.19121170A>C, NG_008320.1:g.16021T>G, NM_022719.3:c.*539T>G, NM_022719.2:c.*539T>G, NR_134304.2:n.2058T>G, NR_134304.1:n.2084T>G, XM_005261282.5:c.*539T>G, XM_005261282.3:c.*539T>G, XM_006724329.4:c.*539T>G, XM_006724329.2:c.*539T>G

Select item 148944608110.

rs1489446081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:19135095 (GRCh38)
22:19122609 (GRCh37)
Canonical SPDI:: NC_000022.11:19135095:T:TT
Gene:: ESS2 (Varview), LOC112268297 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.19135096dup, NC_000022.10:g.19122609dup, NG_008320.1:g.14582dup, NM_022719.3:c.1115dup, NM_022719.2:c.1115dup, NR_134304.2:n.1203dup, NR_134304.1:n.1229dup, XM_005261282.5:c.1118dup, XM_005261282.4:c.1118dup, XM_005261282.3:c.1118dup, XM_005261282.2:c.1118dup, XM_005261282.1:c.1118dup, XM_006724329.4:c.881dup, XM_006724329.3:c.881dup, XM_006724329.2:c.881dup, XM_006724329.1:c.881dup, NP_073210.1:p.Glu373fs, XP_005261339.1:p.Glu374fs, XP_006724392.1:p.Glu295fs

Select item 148904240411.

rs1489042404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19139305 (GRCh38)
22:19126818 (GRCh37)
Canonical SPDI:: NC_000022.11:19139304:G:A
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19139305G>A, NC_000022.10:g.19126818G>A, NG_008320.1:g.10373C>T

Select item 148899601512.

rs1488996015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19141937 (GRCh38)
22:19129450 (GRCh37)
Canonical SPDI:: NC_000022.11:19141936:C:G
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19141937C>G, NC_000022.10:g.19129450C>G, NG_008320.1:g.7741G>C

Select item 148893903213.

rs1488939032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19132817 (GRCh38)
22:19120330 (GRCh37)
Canonical SPDI:: NC_000022.11:19132816:C:G
Gene:: ESS2 (Varview), TSSK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000022.11:g.19132817C>G, NC_000022.10:g.19120330C>G, NG_008320.1:g.16861G>C, NM_022719.3:c.*1379G>C, NM_022719.2:c.*1379G>C, NR_134304.2:n.2898G>C, NR_134304.1:n.2924G>C, XM_005261282.5:c.*1379G>C, XM_005261282.3:c.*1379G>C, XM_006724329.4:c.*1379G>C, XM_006724329.2:c.*1379G>C, NM_001024733.1:c.-338G>C

Select item 148893605414.

rs1488936054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19138075 (GRCh38)
22:19125588 (GRCh37)
Canonical SPDI:: NC_000022.11:19138074:A:G
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19138075A>G, NC_000022.10:g.19125588A>G, NG_008320.1:g.11603T>C

Select item 148891162915.

rs1488911629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19137362 (GRCh38)
22:19124875 (GRCh37)
Canonical SPDI:: NC_000022.11:19137361:T:C
Gene:: ESS2 (Varview), LOC112268297 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19137362T>C, NC_000022.10:g.19124875T>C, NG_008320.1:g.12316A>G, NM_022719.3:c.996A>G, NM_022719.2:c.996A>G, NR_134304.2:n.1084A>G, NR_134304.1:n.1110A>G, XM_005261282.5:c.999A>G, XM_005261282.4:c.999A>G, XM_005261282.3:c.999A>G, XM_005261282.2:c.999A>G, XM_005261282.1:c.999A>G, XM_006724329.4:c.762A>G, XM_006724329.3:c.762A>G, XM_006724329.2:c.762A>G, XM_006724329.1:c.762A>G, XM_011530404.3:c.*65A>G, XM_011530404.2:c.*65A>G, XM_011530404.1:c.*65A>G, XM_047441524.1:c.*65A>G

Select item 148852145716.

rs1488521457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19132158 (GRCh38)
22:19119671 (GRCh37)
Canonical SPDI:: NC_000022.11:19132157:G:A
Gene:: ESS2 (Varview), TSSK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.19132158G>A, NC_000022.10:g.19119671G>A, NG_008320.1:g.17520C>T, NM_022719.3:c.*2038C>T, NM_022719.2:c.*2038C>T, NR_134304.2:n.3557C>T, NR_134304.1:n.3583C>T, XM_005261282.5:c.*2038C>T, XM_005261282.3:c.*2038C>T, NM_053006.5:c.759G>A, NM_053006.4:c.759G>A, XM_006724329.4:c.*2038C>T, XM_006724329.2:c.*2038C>T, NM_001024733.1:c.322C>T

Select item 148838870217.

rs1488388702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:19138500 (GRCh38)
22:19126013 (GRCh37)
Canonical SPDI:: NC_000022.11:19138499:A:C,NC_000022.11:19138499:A:G
Gene:: ESS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (Korea1K)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19138500A>C, NC_000022.11:g.19138500A>G, NC_000022.10:g.19126013A>C, NC_000022.10:g.19126013A>G, NG_008320.1:g.11178T>G, NG_008320.1:g.11178T>C

Select item 148836816418.

rs1488368164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19139921 (GRCh38)
22:19127434 (GRCh37)
Canonical SPDI:: NC_000022.11:19139920:C:T
Gene:: ESS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19139921C>T, NC_000022.10:g.19127434C>T, NG_008320.1:g.9757G>A, NM_022719.3:c.504G>A, NM_022719.2:c.504G>A, NR_134304.2:n.518G>A, NR_134304.1:n.544G>A, XM_005261282.5:c.507G>A, XM_005261282.4:c.507G>A, XM_005261282.3:c.507G>A, XM_005261282.2:c.507G>A, XM_005261282.1:c.507G>A, XM_006724329.4:c.270G>A, XM_006724329.3:c.270G>A, XM_006724329.2:c.270G>A, XM_006724329.1:c.270G>A, XM_011530404.3:c.507G>A, XM_011530404.2:c.507G>A, XM_011530404.1:c.507G>A, XM_011530403.2:c.504G>A, XM_011530403.1:c.504G>A, XM_047441524.1:c.507G>A

Select item 148829187219.

rs1488291872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19137267 (GRCh38)
22:19124780 (GRCh37)
Canonical SPDI:: NC_000022.11:19137266:G:T
Gene:: ESS2 (Varview), LOC112268297 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19137267G>T, NC_000022.10:g.19124780G>T, NG_008320.1:g.12411C>A

Select item 148745771120.

rs1487457711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19144655 (GRCh38)
22:19132168 (GRCh37)
Canonical SPDI:: NC_000022.11:19144654:A:G
Gene:: ESS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.19144655A>G, NC_000022.10:g.19132168A>G, NG_008320.1:g.5023T>C, NM_022719.2:c.-15T>C, NR_134304.1:n.23T>C

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