SNP Links for Gene (Select 27033) - SNP

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Select item 14915155891.

rs1491515589 has merged into rs537947581 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:35707205 (GRCh38)
19:36198107 (GRCh37)
Canonical SPDI:: NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35707195:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
AA=0.410942/2058 (1000Genomes)
HGVS:: NC_000019.10:g.35707205_35707216del, NC_000019.10:g.35707207_35707216del, NC_000019.10:g.35707209_35707216del, NC_000019.10:g.35707212_35707216del, NC_000019.10:g.35707213_35707216del, NC_000019.10:g.35707214_35707216del, NC_000019.10:g.35707215_35707216del, NC_000019.10:g.35707216del, NC_000019.10:g.35707216dup, NC_000019.10:g.35707215_35707216dup, NC_000019.10:g.35707214_35707216dup, NC_000019.10:g.35707213_35707216dup, NC_000019.10:g.35707212_35707216dup, NC_000019.10:g.35707211_35707216dup, NC_000019.10:g.35707209_35707216dup, NC_000019.9:g.36198107_36198118del, NC_000019.9:g.36198109_36198118del, NC_000019.9:g.36198111_36198118del, NC_000019.9:g.36198114_36198118del, NC_000019.9:g.36198115_36198118del, NC_000019.9:g.36198116_36198118del, NC_000019.9:g.36198117_36198118del, NC_000019.9:g.36198118del, NC_000019.9:g.36198118dup, NC_000019.9:g.36198117_36198118dup, NC_000019.9:g.36198116_36198118dup, NC_000019.9:g.36198115_36198118dup, NC_000019.9:g.36198114_36198118dup, NC_000019.9:g.36198113_36198118dup, NC_000019.9:g.36198111_36198118dup

Select item 14914250802.

rs1491425080 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:35707195 (GRCh38)
19:36198097 (GRCh37)
Canonical SPDI:: NC_000019.10:35707194:TA:
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.35707195_35707196del, NC_000019.9:g.36198097_36198098del

Select item 14907292783.

rs1490729278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:35710648 (GRCh38)
19:36201550 (GRCh37)
Canonical SPDI:: NC_000019.10:35710647:G:C
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.35710648G>C, NC_000019.9:g.36201550G>C

Select item 14905762554.

rs1490576255 has merged into rs763219077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:35704132 (GRCh38)
19:36195034 (GRCh37)
Canonical SPDI:: NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:35704123:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZBTB32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.35704132_35704143del, NC_000019.10:g.35704133_35704143del, NC_000019.10:g.35704134_35704143del, NC_000019.10:g.35704136_35704143del, NC_000019.10:g.35704138_35704143del, NC_000019.10:g.35704139_35704143del, NC_000019.10:g.35704140_35704143del, NC_000019.10:g.35704141_35704143del, NC_000019.10:g.35704142_35704143del, NC_000019.10:g.35704143del, NC_000019.10:g.35704143dup, NC_000019.10:g.35704142_35704143dup, NC_000019.10:g.35704141_35704143dup, NC_000019.10:g.35704140_35704143dup, NC_000019.9:g.36195034_36195045del, NC_000019.9:g.36195035_36195045del, NC_000019.9:g.36195036_36195045del, NC_000019.9:g.36195038_36195045del, NC_000019.9:g.36195040_36195045del, NC_000019.9:g.36195041_36195045del, NC_000019.9:g.36195042_36195045del, NC_000019.9:g.36195043_36195045del, NC_000019.9:g.36195044_36195045del, NC_000019.9:g.36195045del, NC_000019.9:g.36195045dup, NC_000019.9:g.36195044_36195045dup, NC_000019.9:g.36195043_36195045dup, NC_000019.9:g.36195042_36195045dup

Select item 14904694725.

rs1490469472 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:35714885 (GRCh38)
19:36205787 (GRCh37)
Canonical SPDI:: NC_000019.10:35714884:CC:
Gene:: ZBTB32 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.35714885_35714886del, NC_000019.9:g.36205787_36205788del, NG_052906.1:g.1867_1868del, NM_014383.3:c.259_260del, NM_014383.2:c.259_260del, NM_014383.1:c.259_260del, NP_055198.1:p.Pro87fs

Select item 14901448026.

rs1490144802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:35715462 (GRCh38)
19:36206364 (GRCh37)
Canonical SPDI:: NC_000019.10:35715461:G:C
Gene:: ZBTB32 (Varview)
Functional Consequence:: splice_acceptor_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35715462G>C, NC_000019.9:g.36206364G>C, NG_052906.1:g.2444G>C, NM_014383.3:c.836G>C, NM_014383.2:c.836G>C, NM_014383.1:c.836G>C, NP_055198.1:p.Ser279Thr

Select item 14901081837.

rs1490108183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:35716454 (GRCh38)
19:36207356 (GRCh37)
Canonical SPDI:: NC_000019.10:35716453:G:A,NC_000019.10:35716453:G:C
Gene:: KMT2B (Varview), ZBTB32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.35716454G>A, NC_000019.10:g.35716454G>C, NC_000019.9:g.36207356G>A, NC_000019.9:g.36207356G>C, NG_052906.1:g.3436G>A, NG_052906.1:g.3436G>C

Select item 14899422418.

rs1489942241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35716095 (GRCh38)
19:36206997 (GRCh37)
Canonical SPDI:: NC_000019.10:35716094:C:T
Gene:: KMT2B (Varview), ZBTB32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.35716095C>T, NC_000019.9:g.36206997C>T, NG_052906.1:g.3077C>T

Select item 14896096769.

rs1489609676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:35713341 (GRCh38)
19:36204243 (GRCh37)
Canonical SPDI:: NC_000019.10:35713340:T:G
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.35713341T>G, NC_000019.9:g.36204243T>G, NG_052906.1:g.323T>G

Select item 148916385710.

rs1489163857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35714648 (GRCh38)
19:36205550 (GRCh37)
Canonical SPDI:: NC_000019.10:35714647:C:G
Gene:: ZBTB32 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.35714648C>G, NC_000019.9:g.36205550C>G, NG_052906.1:g.1630C>G, NM_014383.3:c.22C>G, NM_014383.2:c.22C>G, NM_014383.1:c.22C>G, NP_055198.1:p.Leu8Val

Select item 148908538611.

rs1489085386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35712548 (GRCh38)
19:36203450 (GRCh37)
Canonical SPDI:: NC_000019.10:35712547:T:C
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.35712548T>C, NC_000019.9:g.36203450T>C

Select item 148893093812.

rs1488930938 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTTCCAG>- [Show Flanks]
Chromosome:: 19:35702923 (GRCh38)
19:36193825 (GRCh37)
Canonical SPDI:: NC_000019.10:35702922:ACTTCCAG:
Gene:: ZBTB32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.35702923_35702930del, NC_000019.9:g.36193825_36193832del

Select item 148891410113.

rs1488914101 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148863362014.

rs1488633620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:35706147 (GRCh38)
19:36197049 (GRCh37)
Canonical SPDI:: NC_000019.10:35706146:G:T
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35706147G>T, NC_000019.9:g.36197049G>T

Select item 148850545915.

rs1488505459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35712755 (GRCh38)
19:36203657 (GRCh37)
Canonical SPDI:: NC_000019.10:35712754:T:C
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.35712755T>C, NC_000019.9:g.36203657T>C

Select item 148830967716.

rs1488309677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 19:35712033 (GRCh38)
19:36202936 (GRCh37)
Canonical SPDI:: NC_000019.10:35712033:A:AGA
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.00003/3 (GnomAD)
HGVS:: NC_000019.10:g.35712034_35712035insGA, NC_000019.9:g.36202936_36202937insGA

Select item 148772569517.

rs1487725695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35707127 (GRCh38)
19:36198029 (GRCh37)
Canonical SPDI:: NC_000019.10:35707126:C:T
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35707127C>T, NC_000019.9:g.36198029C>T

Select item 148761509718.

rs1487615097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35707853 (GRCh38)
19:36198755 (GRCh37)
Canonical SPDI:: NC_000019.10:35707852:G:A
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.35707853G>A, NC_000019.9:g.36198755G>A

Select item 148736958119.

rs1487369581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35703189 (GRCh38)
19:36194091 (GRCh37)
Canonical SPDI:: NC_000019.10:35703188:A:G
Gene:: ZBTB32 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.35703189A>G, NC_000019.9:g.36194091A>G

Select item 148736914320.

rs1487369143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35706568 (GRCh38)
19:36197470 (GRCh37)
Canonical SPDI:: NC_000019.10:35706567:A:G
Gene:: ZBTB32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.35706568A>G, NC_000019.9:g.36197470A>G

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