SNP Links for Nucleotide (Select 224451065) - SNP

Links from Nucleotide

Items: 1 to 20 of 562

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Select item 14908474461.

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 14893592252.

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 14891325973.

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 14888047574.

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 14877578065.

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 14858944316.

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 14842238767.

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 14836194278.

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

Select item 14822772369.

rs1482277236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:21002610 (GRCh38)
22:21356899 (GRCh37)
Canonical SPDI:: NC_000022.11:21002609:T:C,NC_000022.11:21002609:T: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)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21002610T>C, NC_000022.11:g.21002610T>G, NC_000022.10:g.21356899T>C, NC_000022.10:g.21356899T>G, NM_178315.2:c.161T>C, NM_178315.2:c.161T>G, NR_027051.1:n.689T>C, NR_027051.1:n.689T>G, NR_027052.1:n.689T>C, NR_027052.1:n.689T>G, NM_178315.1:c.161T>C, NM_178315.1:c.161T>G

Select item 148174718810.

rs1481747188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21002594 (GRCh38)
22:21356883 (GRCh37)
Canonical SPDI:: NC_000022.11:21002593:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21002594C>T, NC_000022.10:g.21356883C>T, NM_178315.2:c.145C>T, NR_027051.1:n.673C>T, NR_027052.1:n.673C>T, NM_178315.1:c.145C>T

Select item 147988286111.

rs1479882861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:21002345 (GRCh38)
22:21356634 (GRCh37)
Canonical SPDI:: NC_000022.11:21002344:C:A,NC_000022.11:21002344:C:T
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:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.21002345C>A, NC_000022.11:g.21002345C>T, NC_000022.10:g.21356634C>A, NC_000022.10:g.21356634C>T, NM_178315.2:c.-105C>A, NM_178315.2:c.-105C>T, NR_027051.1:n.424C>A, NR_027051.1:n.424C>T, NR_027052.1:n.424C>A, NR_027052.1:n.424C>T

Select item 147761989812.

rs1477619898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21002105 (GRCh38)
22:21356394 (GRCh37)
Canonical SPDI:: NC_000022.11:21002104:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.21002105C>T, NC_000022.10:g.21356394C>T, NM_030573.3:c.-194G>A, NM_030573.2:c.-194G>A, NR_027051.1:n.184C>T, NR_027052.1:n.184C>T, NM_001008695.1:c.-20G>A

Select item 147553304113.

rs1475533041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21002118 (GRCh38)
22:21356407 (GRCh37)
Canonical SPDI:: NC_000022.11:21002117:C:T
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.21002118C>T, NC_000022.10:g.21356407C>T, NM_030573.3:c.-207G>A, NR_027051.1:n.197C>T, NR_027052.1:n.197C>T

Select item 147520419614.

rs1475204196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21002327 (GRCh38)
22:21356616 (GRCh37)
Canonical SPDI:: NC_000022.11:21002326:C:T
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:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.21002327C>T, NC_000022.10:g.21356616C>T, NM_178315.2:c.-123C>T, NR_027051.1:n.406C>T, NR_027052.1:n.406C>T

Select item 147411918415.

rs1474119184 has merged into rs759958707 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 22:21002804 (GRCh38)
22:21357093 (GRCh37)
Canonical SPDI:: NC_000022.11:21002803:AA:A,NC_000022.11:21002803:AA:AAA
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0./0 (ExAC)
-=0.000006/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.21002805del, NC_000022.11:g.21002805dup, NC_000022.10:g.21357094del, NC_000022.10:g.21357094dup, NM_178315.2:c.356del, NM_178315.2:c.356dup, NR_027051.1:n.884del, NR_027051.1:n.884dup, NR_027052.1:n.884del, NR_027052.1:n.884dup, NM_178315.1:c.356del, NM_178315.1:c.356dup

Select item 147354333216.

rs1473543332 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 22:21002943 (GRCh38)
22:21357232 (GRCh37)
Canonical SPDI:: NC_000022.11:21002941:CCAC:C
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:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21002943_21002945del, NC_000022.10:g.21357232_21357234del, NR_027052.1:n.934_936del

Select item 147223187817.

rs1472231878 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGC>- [Show Flanks]
Chromosome:: 22:21002780 (GRCh38)
22:21357069 (GRCh37)
Canonical SPDI:: NC_000022.11:21002778:CAAGC:C
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000022/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21002780_21002783del, NC_000022.10:g.21357069_21357072del, NM_178315.2:c.331_334del, NR_027051.1:n.859_862del, NR_027052.1:n.859_862del, NM_178315.1:c.331_334del

Select item 147092542718.

rs1470925427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21001972 (GRCh38)
22:21356261 (GRCh37)
Canonical SPDI:: NC_000022.11:21001971:G:A
Gene:: THAP7 (Varview), THAP7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.21001972G>A, NC_000022.10:g.21356261G>A, NM_030573.3:c.-61C>T, NM_030573.2:c.-61C>T, NR_027051.1:n.51G>A, NR_027052.1:n.51G>A

Select item 146990419719.

rs1469904197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:21002193 (GRCh38)
22:21356482 (GRCh37)
Canonical SPDI:: NC_000022.11:21002192:C:A,NC_000022.11:21002192:C:T
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:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21002193C>A, NC_000022.11:g.21002193C>T, NC_000022.10:g.21356482C>A, NC_000022.10:g.21356482C>T, NR_027051.1:n.272C>A, NR_027051.1:n.272C>T, NR_027052.1:n.272C>A, NR_027052.1:n.272C>T

Select item 146939075420.

rs1469390754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:21002180 (GRCh38)
22:21356469 (GRCh37)
Canonical SPDI:: NC_000022.11:21002179:C:A,NC_000022.11:21002179:C:T
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:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.21002180C>A, NC_000022.11:g.21002180C>T, NC_000022.10:g.21356469C>A, NC_000022.10:g.21356469C>T, NR_027051.1:n.259C>A, NR_027051.1:n.259C>T, NR_027052.1:n.259C>A, NR_027052.1:n.259C>T

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