SNP Links for Nucleotide (Select 379030593) - SNP

Links from Nucleotide

Items: 1 to 20 of 931

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Select item 14909332011.

rs1490933201 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:52032580 (GRCh38)
1:52498252 (GRCh37)
Canonical SPDI:: NC_000001.11:52032577:CACA:CA
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.52032578CA[1], NC_000001.10:g.52498250CA[1], NM_138417.3:c.*116TG[1], NM_138417.2:c.*116TG[1], NR_046405.1:n.2704TG[1], NR_046406.1:n.2581TG[1]

Select item 14904696332.

rs1490469633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:52032967 (GRCh38)
1:52498639 (GRCh37)
Canonical SPDI:: NC_000001.11:52032966:G:A,NC_000001.11:52032966:G:C
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52032967G>A, NC_000001.11:g.52032967G>C, NC_000001.10:g.52498639G>A, NC_000001.10:g.52498639G>C, NM_138417.3:c.795C>T, NM_138417.3:c.795C>G, NM_138417.2:c.795C>T, NM_138417.2:c.795C>G, NR_046405.1:n.2318C>T, NR_046405.1:n.2318C>G, NR_046406.1:n.2195C>T, NR_046406.1:n.2195C>G

Select item 14904391173.

rs1490439117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:52033417 (GRCh38)
1:52499089 (GRCh37)
Canonical SPDI:: NC_000001.11:52033416:C:A,NC_000001.11:52033416:C:G,NC_000001.11:52033416:C:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52033417C>A, NC_000001.11:g.52033417C>G, NC_000001.11:g.52033417C>T, NC_000001.10:g.52499089C>A, NC_000001.10:g.52499089C>G, NC_000001.10:g.52499089C>T, NM_138417.3:c.345G>T, NM_138417.3:c.345G>C, NM_138417.3:c.345G>A, NM_138417.2:c.345G>T, NM_138417.2:c.345G>C, NM_138417.2:c.345G>A, NR_046405.1:n.1868G>T, NR_046405.1:n.1868G>C, NR_046405.1:n.1868G>A, NR_046406.1:n.1745G>T, NR_046406.1:n.1745G>C, NR_046406.1:n.1745G>A

Select item 14870730284.

rs1487073028 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCAAG>- [Show Flanks]
Chromosome:: 1:52055397 (GRCh38)
1:52521069 (GRCh37)
Canonical SPDI:: NC_000001.11:52055394:AGGCCAAG:AG
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52055397_52055402del, NC_000001.10:g.52521069_52521074del, NM_015913.3:c.-304_-299del, NR_046405.1:n.772_777del, NR_046406.1:n.772_777del

Select item 14869410525.

rs1486941052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52032292 (GRCh38)
1:52497964 (GRCh37)
Canonical SPDI:: NC_000001.11:52032291:C:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52032292C>T, NC_000001.10:g.52497964C>T, NM_138417.3:c.*405G>A, NM_138417.2:c.*405G>A, NR_046405.1:n.2993G>A, NR_046406.1:n.2870G>A

Select item 14862162306.

rs1486216230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:52055660 (GRCh38)
1:52521332 (GRCh37)
Canonical SPDI:: NC_000001.11:52055659:C:G,NC_000001.11:52055659:C:T
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000007/1 (GnomAD)
T=0.000849/14 (TOMMO)
HGVS:: NC_000001.11:g.52055660C>G, NC_000001.11:g.52055660C>T, NC_000001.10:g.52521332C>G, NC_000001.10:g.52521332C>T, NM_015913.3:c.-564G>C, NM_015913.3:c.-564G>A, NR_046405.1:n.512G>C, NR_046405.1:n.512G>A, NR_046406.1:n.512G>C, NR_046406.1:n.512G>A

Select item 14859493277.

rs1485949327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:52032290 (GRCh38)
1:52497962 (GRCh37)
Canonical SPDI:: NC_000001.11:52032289:T:C
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52032290T>C, NC_000001.10:g.52497962T>C, NM_138417.3:c.*407A>G, NM_138417.2:c.*407A>G, NR_046405.1:n.2995A>G, NR_046406.1:n.2872A>G

Select item 14856362868.

rs1485636286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52033620 (GRCh38)
1:52499292 (GRCh37)
Canonical SPDI:: NC_000001.11:52033619:C:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52033620C>T, NC_000001.10:g.52499292C>T, NM_138417.3:c.142G>A, NM_138417.2:c.142G>A, NR_046405.1:n.1665G>A, NR_046406.1:n.1542G>A, NP_612426.1:p.Val48Met

Select item 14842805519.

rs1484280551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:52032144 (GRCh38)
1:52497816 (GRCh37)
Canonical SPDI:: NC_000001.11:52032143:A:C
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.001309/22 (TOMMO)
C=0.001369/4 (KOREAN)
C=0.002183/4 (Korea1K)
HGVS:: NC_000001.11:g.52032144A>C, NC_000001.10:g.52497816A>C, NM_138417.3:c.*553T>G, NM_138417.2:c.*553T>G, NR_046405.1:n.3141T>G, NR_046406.1:n.3018T>G

Select item 148397894210.

rs1483978942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:52033287 (GRCh38)
1:52498959 (GRCh37)
Canonical SPDI:: NC_000001.11:52033286:C:A
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.52033287C>A, NC_000001.10:g.52498959C>A, NM_138417.3:c.475G>T, NM_138417.2:c.475G>T, NR_046405.1:n.1998G>T, NR_046406.1:n.1875G>T, NP_612426.1:p.Asp159Tyr

Select item 148263936711.

rs1482639367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:52055305 (GRCh38)
1:52520977 (GRCh37)
Canonical SPDI:: NC_000001.11:52055304:C:G
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52055305C>G, NC_000001.10:g.52520977C>G, NM_015913.3:c.-209G>C, NR_046405.1:n.867G>C, NR_046406.1:n.867G>C

Select item 148183318612.

rs1481833186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:52033629 (GRCh38)
1:52499301 (GRCh37)
Canonical SPDI:: NC_000001.11:52033628:C:G,NC_000001.11:52033628:C:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52033629C>G, NC_000001.11:g.52033629C>T, NC_000001.10:g.52499301C>G, NC_000001.10:g.52499301C>T, NM_138417.3:c.133G>C, NM_138417.3:c.133G>A, NM_138417.2:c.133G>C, NM_138417.2:c.133G>A, NR_046405.1:n.1656G>C, NR_046405.1:n.1656G>A, NR_046406.1:n.1533G>C, NR_046406.1:n.1533G>A, NP_612426.1:p.Asp45His, NP_612426.1:p.Asp45Asn

Select item 148156662713.

rs1481566627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52033360 (GRCh38)
1:52499032 (GRCh37)
Canonical SPDI:: NC_000001.11:52033359:C:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52033360C>T, NC_000001.10:g.52499032C>T, NM_138417.3:c.402G>A, NM_138417.2:c.402G>A, NR_046405.1:n.1925G>A, NR_046406.1:n.1802G>A, NP_612426.1:p.Trp134Ter

Select item 148127878514.

rs1481278785 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:52055414 (GRCh38)
1:52521086 (GRCh37)
Canonical SPDI:: NC_000001.11:52055413:GGGGG:GGGG
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000142/2 (ALFA)
-=0.000034/9 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.52055418del, NC_000001.10:g.52521090del, NM_015913.3:c.-318del, NR_046405.1:n.758del, NR_046406.1:n.758del

Select item 148121103715.

rs1481211037 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:52032591 (GRCh38)
1:52498263 (GRCh37)
Canonical SPDI:: NC_000001.11:52032590:G:
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52032591del, NC_000001.10:g.52498263del, NM_138417.3:c.*106del, NM_138417.2:c.*106del, NR_046405.1:n.2694del, NR_046406.1:n.2571del

Select item 148110817916.

rs1481108179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:52055398 (GRCh38)
1:52521070 (GRCh37)
Canonical SPDI:: NC_000001.11:52055397:C:A
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52055398C>A, NC_000001.10:g.52521070C>A, NM_015913.3:c.-302G>T, NR_046405.1:n.774G>T, NR_046406.1:n.774G>T

Select item 148036701017.

rs1480367010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:52032570 (GRCh38)
1:52498242 (GRCh37)
Canonical SPDI:: NC_000001.11:52032569:G:T
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52032570G>T, NC_000001.10:g.52498242G>T, NM_138417.3:c.*127C>A, NM_138417.2:c.*127C>A, NR_046405.1:n.2715C>A, NR_046406.1:n.2592C>A

Select item 147989788918.

rs1479897889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52033691 (GRCh38)
1:52499363 (GRCh37)
Canonical SPDI:: NC_000001.11:52033690:G:A
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.52033691G>A, NC_000001.10:g.52499363G>A, NM_138417.3:c.71C>T, NM_138417.2:c.71C>T, NR_046405.1:n.1594C>T, NR_046406.1:n.1471C>T, NP_612426.1:p.Ala24Val

Select item 147984662219.

rs1479846622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52055522 (GRCh38)
1:52521194 (GRCh37)
Canonical SPDI:: NC_000001.11:52055521:A:G
Gene:: TXNDC12 (Varview), BTF3L4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.52055522A>G, NC_000001.10:g.52521194A>G, NM_015913.3:c.-426T>C, NR_046405.1:n.650T>C, NR_046406.1:n.650T>C

Select item 147894251120.

rs1478942511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:52033879 (GRCh38)
1:52499551 (GRCh37)
Canonical SPDI:: NC_000001.11:52033878:T:C
Gene:: TXNDC12 (Varview), KTI12 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.52033879T>C, NC_000001.10:g.52499551T>C, NR_046405.1:n.1406A>G, NR_046406.1:n.1283A>G

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