SNP Links for Gene (Select 441273) - SNP

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Select item 14913714411.

rs1491371441 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 7:102557337 (GRCh38)
7:102197785 (GRCh37)
Canonical SPDI:: NC_000007.14:102557337:TTTT:TTTTGTTTT
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTGTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102557338_102557341T[4]GTTTT[1], NC_000007.13:g.102197785_102197788T[4]GTTTT[1]

Select item 14912236072.

rs1491223607 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CGA [Show Flanks]
Chromosome:: 7:102555634 (GRCh38)
7:102196082 (GRCh37)
Canonical SPDI:: NC_000007.14:102555634:A:ACA,NC_000007.14:102555634:A:ACGA
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.00025/3 (ALFA)
HGVS:: NC_000007.14:g.102555635_102555636insCA, NC_000007.14:g.102555635_102555636insCGA, NC_000007.13:g.102196082_102196083insCA, NC_000007.13:g.102196082_102196083insCGA

Select item 14911490183.

rs1491149018 has merged into rs1203194591 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:102555640 (GRCh38)
7:102196087 (GRCh37)
Canonical SPDI:: NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555633:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102555640_102555650del, NC_000007.14:g.102555643_102555650del, NC_000007.14:g.102555645_102555650del, NC_000007.14:g.102555646_102555650del, NC_000007.14:g.102555647_102555650del, NC_000007.14:g.102555649_102555650del, NC_000007.14:g.102555650del, NC_000007.14:g.102555650dup, NC_000007.14:g.102555649_102555650dup, NC_000007.14:g.102555648_102555650dup, NC_000007.14:g.102555647_102555650dup, NC_000007.14:g.102555645_102555650dup, NC_000007.13:g.102196087_102196097del, NC_000007.13:g.102196090_102196097del, NC_000007.13:g.102196092_102196097del, NC_000007.13:g.102196093_102196097del, NC_000007.13:g.102196094_102196097del, NC_000007.13:g.102196096_102196097del, NC_000007.13:g.102196097del, NC_000007.13:g.102196097dup, NC_000007.13:g.102196096_102196097dup, NC_000007.13:g.102196095_102196097dup, NC_000007.13:g.102196094_102196097dup, NC_000007.13:g.102196092_102196097dup

Select item 14911042044.

rs1491104204 has merged into rs374098436 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102557340 (GRCh38)
7:102197787 (GRCh37)
Canonical SPDI:: NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102557336:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102557340_102557352del, NC_000007.14:g.102557342_102557352del, NC_000007.14:g.102557343_102557352del, NC_000007.14:g.102557344_102557352del, NC_000007.14:g.102557345_102557352del, NC_000007.14:g.102557346_102557352del, NC_000007.14:g.102557347_102557352del, NC_000007.14:g.102557348_102557352del, NC_000007.14:g.102557349_102557352del, NC_000007.14:g.102557350_102557352del, NC_000007.14:g.102557351_102557352del, NC_000007.14:g.102557352del, NC_000007.14:g.102557352dup, NC_000007.14:g.102557351_102557352dup, NC_000007.14:g.102557350_102557352dup, NC_000007.14:g.102557349_102557352dup, NC_000007.14:g.102557348_102557352dup, NC_000007.14:g.102557344_102557352dup, NC_000007.14:g.102557343_102557352dup, NC_000007.13:g.102197787_102197799del, NC_000007.13:g.102197789_102197799del, NC_000007.13:g.102197790_102197799del, NC_000007.13:g.102197791_102197799del, NC_000007.13:g.102197792_102197799del, NC_000007.13:g.102197793_102197799del, NC_000007.13:g.102197794_102197799del, NC_000007.13:g.102197795_102197799del, NC_000007.13:g.102197796_102197799del, NC_000007.13:g.102197797_102197799del, NC_000007.13:g.102197798_102197799del, NC_000007.13:g.102197799del, NC_000007.13:g.102197799dup, NC_000007.13:g.102197798_102197799dup, NC_000007.13:g.102197797_102197799dup, NC_000007.13:g.102197796_102197799dup, NC_000007.13:g.102197795_102197799dup, NC_000007.13:g.102197791_102197799dup, NC_000007.13:g.102197790_102197799dup

Select item 14909705645.

rs1490970564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:102556672 (GRCh38)
7:102197119 (GRCh37)
Canonical SPDI:: NC_000007.14:102556671:A:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.102556672A>T, NC_000007.13:g.102197119A>T

Select item 14909554066.

rs1490955406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:102554669 (GRCh38)
7:102195116 (GRCh37)
Canonical SPDI:: NC_000007.14:102554668:G:A,NC_000007.14:102554668:G:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00148/24 (ALFA)
A=0.00004/1 (TOMMO)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.102554669G>A, NC_000007.14:g.102554669G>T, NC_000007.13:g.102195116G>A, NC_000007.13:g.102195116G>T

Select item 14906483467.

rs1490648346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:102564475 (GRCh38)
7:102204922 (GRCh37)
Canonical SPDI:: NC_000007.14:102564474:G:C
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102564475G>C, NC_000007.13:g.102204922G>C, XM_011516237.4:c.*3419G>C, XM_047420405.1:c.*3419G>C

Select item 14904781638.

rs1490478163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102558069 (GRCh38)
7:102198516 (GRCh37)
Canonical SPDI:: NC_000007.14:102558068:C:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.102558069C>T, NC_000007.13:g.102198516C>T

Select item 14903882689.

rs1490388268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102563283 (GRCh38)
7:102203730 (GRCh37)
Canonical SPDI:: NC_000007.14:102563282:A:G
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000087/11 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.102563283A>G, NC_000007.13:g.102203730A>G, XM_011516237.4:c.*2227A>G, XM_047420405.1:c.*2227A>G, NM_001396242.1:c.*1273A>G

Select item 149023735510.

rs1490237355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:102554144 (GRCh38)
7:102194591 (GRCh37)
Canonical SPDI:: NC_000007.14:102554143:A:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.102554144A>T, NC_000007.13:g.102194591A>T

Select item 149020645811.

rs1490206458 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:102551368 (GRCh38)
7:102191815 (GRCh37)
Canonical SPDI:: NC_000007.14:102551367:TTTT:TTT
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102551371del, NC_000007.13:g.102191818del

Select item 149015250212.

rs1490152502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102555364 (GRCh38)
7:102195811 (GRCh37)
Canonical SPDI:: NC_000007.14:102555363:A:G
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000024/3 (GnomAD)
G=0.000468/3 (1000Genomes)
HGVS:: NC_000007.14:g.102555364A>G, NC_000007.13:g.102195811A>G

Select item 149006011813.

rs1490060118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102564848 (GRCh38)
7:102205295 (GRCh37)
Canonical SPDI:: NC_000007.14:102564847:T:C
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.102564848T>C, NC_000007.13:g.102205295T>C, XM_011516237.4:c.*3792T>C, XM_047420405.1:c.*3792T>C

Select item 148979477314.

rs1489794773 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:102555806 (GRCh38)
7:102196253 (GRCh37)
Canonical SPDI:: NC_000007.14:102555805:C:
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000023/2 (GnomAD)
HGVS:: NC_000007.14:g.102555806del, NC_000007.13:g.102196253del

Select item 148969568815.

rs1489695688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102553525 (GRCh38)
7:102193972 (GRCh37)
Canonical SPDI:: NC_000007.14:102553524:G:A
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.102553525G>A, NC_000007.13:g.102193972G>A

Select item 148966486216.

rs1489664862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102550824 (GRCh38)
7:102191271 (GRCh37)
Canonical SPDI:: NC_000007.14:102550823:G:A
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00086/14 (ALFA)
HGVS:: NC_000007.14:g.102550824G>A, NC_000007.13:g.102191271G>A

Select item 148965161717.

rs1489651617 has merged into rs1219322377 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:102555252 (GRCh38)
7:102195699 (GRCh37)
Canonical SPDI:: NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102555232:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102555252_102555260del, NC_000007.14:g.102555254_102555260del, NC_000007.14:g.102555255_102555260del, NC_000007.14:g.102555256_102555260del, NC_000007.14:g.102555257_102555260del, NC_000007.14:g.102555258_102555260del, NC_000007.14:g.102555259_102555260del, NC_000007.14:g.102555260del, NC_000007.14:g.102555260dup, NC_000007.14:g.102555259_102555260dup, NC_000007.14:g.102555258_102555260dup, NC_000007.14:g.102555257_102555260dup, NC_000007.14:g.102555256_102555260dup, NC_000007.14:g.102555255_102555260dup, NC_000007.14:g.102555254_102555260dup, NC_000007.14:g.102555253_102555260dup, NC_000007.14:g.102555252_102555260dup, NC_000007.14:g.102555249_102555260dup, NC_000007.14:g.102555248_102555260dup, NC_000007.13:g.102195699_102195707del, NC_000007.13:g.102195701_102195707del, NC_000007.13:g.102195702_102195707del, NC_000007.13:g.102195703_102195707del, NC_000007.13:g.102195704_102195707del, NC_000007.13:g.102195705_102195707del, NC_000007.13:g.102195706_102195707del, NC_000007.13:g.102195707del, NC_000007.13:g.102195707dup, NC_000007.13:g.102195706_102195707dup, NC_000007.13:g.102195705_102195707dup, NC_000007.13:g.102195704_102195707dup, NC_000007.13:g.102195703_102195707dup, NC_000007.13:g.102195702_102195707dup, NC_000007.13:g.102195701_102195707dup, NC_000007.13:g.102195700_102195707dup, NC_000007.13:g.102195699_102195707dup, NC_000007.13:g.102195696_102195707dup, NC_000007.13:g.102195695_102195707dup

Select item 148963744818.

rs1489637448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:102550942 (GRCh38)
7:102191389 (GRCh37)
Canonical SPDI:: NC_000007.14:102550941:C:A,NC_000007.14:102550941:C:G,NC_000007.14:102550941:C:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102550942C>A, NC_000007.14:g.102550942C>G, NC_000007.14:g.102550942C>T, NC_000007.13:g.102191389C>A, NC_000007.13:g.102191389C>G, NC_000007.13:g.102191389C>T

Select item 148956903619.

rs1489569036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102564338 (GRCh38)
7:102204785 (GRCh37)
Canonical SPDI:: NC_000007.14:102564337:G:A
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.102564338G>A, NC_000007.13:g.102204785G>A, XM_011516237.4:c.*3282G>A, XM_047420405.1:c.*3282G>A

Select item 148935687820.

rs1489356878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:102555454 (GRCh38)
7:102195901 (GRCh37)
Canonical SPDI:: NC_000007.14:102555453:A:T
Gene:: SPDYE2 (Varview), POLR2J3-UPK3BL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000007.14:g.102555454A>T, NC_000007.13:g.102195901A>T

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