SNP Links for Gene (Select 80764) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1866

<< First< Prev

Page of 94

Next >Last >>

Select item 14913920231.

rs1491392023 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:21003620 (GRCh38)
22:21357909 (GRCh37)
Canonical SPDI:: NC_000022.11:21003618:AGA:A
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0215/83 (ALSPAC)
-=0.0283/105 (TWINSUK)
HGVS:: NC_000022.11:g.21003620_21003621del, NC_000022.10:g.21357909_21357910del

Select item 14910151802.

rs1491015180 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:21003633 (GRCh38)
22:21357922 (GRCh37)
Canonical SPDI:: NC_000022.11:21003632:AT:
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000061/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.21003633_21003634del, NC_000022.10:g.21357922_21357923del

Select item 14908474463.

rs1490847446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:21002421 (GRCh38)
22:21356710 (GRCh37)
Canonical SPDI:: NC_000022.11:21002420:A:C
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.21002421A>C, NC_000022.10:g.21356710A>C, NM_178315.2:c.-29A>C, NR_027051.1:n.500A>C, NR_027052.1:n.500A>C

Select item 14908101854.

rs1490810185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20999291 (GRCh38)
22:21353580 (GRCh37)
Canonical SPDI:: NC_000022.11:20999290:A:G
Gene:: LZTR1 (Varview), THAP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.20999291A>G, NC_000022.10:g.21353580A>G, NG_034193.1:g.22023A>G, NM_030573.3:c.*589T>C

Select item 14904002665.

rs1490400266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:21004112 (GRCh38)
22:21358401 (GRCh37)
Canonical SPDI:: NC_000022.11:21004111:T:G
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21004112T>G, NC_000022.10:g.21358401T>G

Select item 14898326286.

rs1489832628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:20999990 (GRCh38)
22:21354279 (GRCh37)
Canonical SPDI:: NC_000022.11:20999989:T:C
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.20999990T>C, NC_000022.10:g.21354279T>C, NG_034193.1:g.22722T>C, NM_030573.3:c.820A>G, NM_030573.2:c.820A>G, NM_001008696.1:c.178A>G, NM_001008695.1:c.820A>G, NP_085050.2:p.Lys274Glu, NP_001008695.1:p.Lys274Glu

Select item 14893592257.

rs1489359225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21003097 (GRCh38)
22:21357386 (GRCh37)
Canonical SPDI:: NC_000022.11:21003096:G:A
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.21003097G>A, NC_000022.10:g.21357386G>A, NR_027052.1:n.1088G>A

Select item 14891325978.

rs1489132597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:21002555 (GRCh38)
22:21356844 (GRCh37)
Canonical SPDI:: NC_000022.11:21002554:A:G
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21002555A>G, NC_000022.10:g.21356844A>G, NM_178315.2:c.106A>G, NR_027051.1:n.634A>G, NR_027052.1:n.634A>G, NM_178315.1:c.106A>G

Select item 14890844329.

rs1489084432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21000079 (GRCh38)
22:21354368 (GRCh37)
Canonical SPDI:: NC_000022.11:21000078:G:A
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.21000079G>A, NC_000022.10:g.21354368G>A, NG_034193.1:g.22811G>A, NM_030573.3:c.731C>T, NM_030573.2:c.731C>T, NM_001008696.1:c.89C>T, NM_001008695.1:c.731C>T, NP_085050.2:p.Ala244Val, NP_001008695.1:p.Ala244Val

Select item 148902530510.

rs1489025305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21001208 (GRCh38)
22:21355497 (GRCh37)
Canonical SPDI:: NC_000022.11:21001207:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.21001208C>T, NC_000022.10:g.21355497C>T

Select item 148880475711.

rs1488804757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:21002792 (GRCh38)
22:21357081 (GRCh37)
Canonical SPDI:: NC_000022.11:21002791:C:G
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21002792C>G, NC_000022.10:g.21357081C>G, NM_178315.2:c.343C>G, NR_027051.1:n.871C>G, NR_027052.1:n.871C>G, NM_178315.1:c.343C>G

Select item 148775780612.

rs1487757806 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 22:21003167 (GRCh38)
22:21357456 (GRCh37)
Canonical SPDI:: NC_000022.11:21003166:TT:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21003168del, NC_000022.10:g.21357457del, NR_027052.1:n.1159del

Select item 148754194513.

rs1487541945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21001599 (GRCh38)
22:21355888 (GRCh37)
Canonical SPDI:: NC_000022.11:21001598:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21001599C>T, NC_000022.10:g.21355888C>T, NM_001008696.1:c.-639G>A

Select item 148589443114.

rs1485894431 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 22:21002631 (GRCh38)
22:21356920 (GRCh37)
Canonical SPDI:: NC_000022.11:21002630:TTTTTT:TTTTT,NC_000022.11:21002630:TTTTTT:TTTTTTT
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.21002636del, NC_000022.11:g.21002636dup, NC_000022.10:g.21356925del, NC_000022.10:g.21356925dup, NM_178315.2:c.187del, NM_178315.2:c.187dup, NR_027051.1:n.715del, NR_027051.1:n.715dup, NR_027052.1:n.715del, NR_027052.1:n.715dup, NM_178315.1:c.187del, NM_178315.1:c.187dup

Select item 148453763215.

rs1484537632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:21000404 (GRCh38)
22:21354693 (GRCh37)
Canonical SPDI:: NC_000022.11:21000403:G:C
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21000404G>C, NC_000022.10:g.21354693G>C, NG_034193.1:g.23136G>C, NM_030573.3:c.406C>G, NM_030573.2:c.406C>G, NM_001008696.1:c.-237C>G, NM_001008695.1:c.406C>G, NP_085050.2:p.Pro136Ala, NP_001008695.1:p.Pro136Ala

Select item 148430874316.

rs1484308743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21000406 (GRCh38)
22:21354695 (GRCh37)
Canonical SPDI:: NC_000022.11:21000405:G:A
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.21000406G>A, NC_000022.10:g.21354695G>A, NG_034193.1:g.23138G>A, NM_030573.3:c.404C>T, NM_030573.2:c.404C>T, NM_001008696.1:c.-239C>T, NM_001008695.1:c.404C>T, NP_085050.2:p.Thr135Ile, NP_001008695.1:p.Thr135Ile

Select item 148422387617.

rs1484223876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:21003065 (GRCh38)
22:21357354 (GRCh37)
Canonical SPDI:: NC_000022.11:21003064:C:A,NC_000022.11:21003064:C:G
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21003065C>A, NC_000022.11:g.21003065C>G, NC_000022.10:g.21357354C>A, NC_000022.10:g.21357354C>G, NR_027052.1:n.1056C>A, NR_027052.1:n.1056C>G

Select item 148420825218.

rs1484208252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21001107 (GRCh38)
22:21355396 (GRCh37)
Canonical SPDI:: NC_000022.11:21001106:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000022.11:g.21001107C>T, NC_000022.10:g.21355396C>T

Select item 148384834319.

rs1483848343 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 22:21003492 (GRCh38)
22:21357781 (GRCh37)
Canonical SPDI:: NC_000022.11:21003489:CTCCT:CT
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.21003492_21003494del, NC_000022.10:g.21357781_21357783del

Select item 148361942720.

rs1483619427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:21003169 (GRCh38)
22:21357458 (GRCh37)
Canonical SPDI:: NC_000022.11:21003168:A:G,NC_000022.11:21003168:A:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.21003169A>G, NC_000022.11:g.21003169A>T, NC_000022.10:g.21357458A>G, NC_000022.10:g.21357458A>T, NR_027052.1:n.1160A>G, NR_027052.1:n.1160A>T