SNP Links for Nucleotide (Select 226529226) - SNP

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Links from Nucleotide

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Select item 14910314231.

rs1491031423 has merged into rs199580903 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 7:57473524 (GRCh38)
7:57533230 (GRCh37)
Canonical SPDI:: NC_000007.14:57473519:AAAAAAAAAAA:AAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:57473519:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.271646/71902 (TOPMED)
-=0.295483/1439 (1000Genomes)
-=0.301444/167 (NorthernSweden)
-=0.318889/1229 (ALSPAC)
HGVS:: NC_000007.14:g.57473524_57473530del, NC_000007.14:g.57473528_57473530del, NC_000007.14:g.57473529_57473530del, NC_000007.14:g.57473530del, NC_000007.14:g.57473530dup, NC_000007.14:g.57473529_57473530dup, NC_000007.14:g.57473528_57473530dup, NC_000007.13:g.57533230_57533236del, NC_000007.13:g.57533234_57533236del, NC_000007.13:g.57533235_57533236del, NC_000007.13:g.57533236del, NC_000007.13:g.57533236dup, NC_000007.13:g.57533235_57533236dup, NC_000007.13:g.57533234_57533236dup, NW_003571038.1:g.199005_199011del, NW_003571038.1:g.199009_199011del, NW_003571038.1:g.199010_199011del, NW_003571038.1:g.199011del, NW_003571038.1:g.199011dup, NW_003571038.1:g.199010_199011dup, NW_003571038.1:g.199009_199011dup, NM_001159279.1:c.*3575_*3581del, NM_001159279.1:c.*3579_*3581del, NM_001159279.1:c.*3580_*3581del, NM_001159279.1:c.*3581del, NM_001159279.1:c.*3581dup, NM_001159279.1:c.*3580_*3581dup, NM_001159279.1:c.*3579_*3581dup

Select item 14897738002.

rs1489773800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57472968 (GRCh38)
7:57532674 (GRCh37)
Canonical SPDI:: NC_000007.14:57472967:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.57472968A>G, NC_000007.13:g.57532674A>G, NW_003571038.1:g.198449A>G, NM_001159279.1:c.*3019A>G

Select item 14894523693.

rs1489452369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:57469428 (GRCh38)
7:57529134 (GRCh37)
Canonical SPDI:: NC_000007.14:57469427:C:A,NC_000007.14:57469427:C:G
Gene:: ZNF716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.57469428C>A, NC_000007.14:g.57469428C>G, NC_000007.13:g.57529134C>A, NC_000007.13:g.57529134C>G, NW_003571038.1:g.194909C>A, NW_003571038.1:g.194909C>G, NM_001159279.1:c.967C>A, NM_001159279.1:c.967C>G, NP_001152751.1:p.Pro323Thr, NP_001152751.1:p.Pro323Ala

Select item 14891173924.

rs1489117392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:57469555 (GRCh38)
7:57529261 (GRCh37)
Canonical SPDI:: NC_000007.14:57469554:C:G,NC_000007.14:57469554:C:T
Gene:: ZNF716 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.57469555C>G, NC_000007.14:g.57469555C>T, NC_000007.13:g.57529261C>G, NC_000007.13:g.57529261C>T, NW_003571038.1:g.195036C>G, NW_003571038.1:g.195036C>T, NM_001159279.1:c.1094C>G, NM_001159279.1:c.1094C>T, NP_001152751.1:p.Ser365Ter, NP_001152751.1:p.Ser365Leu

Select item 14886058215.

rs1488605821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:57470866 (GRCh38)
7:57530572 (GRCh37)
Canonical SPDI:: NC_000007.14:57470865:C:G
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.57470866C>G, NC_000007.13:g.57530572C>G, NW_003571038.1:g.196347C>G, NM_001159279.1:c.*917C>G

Select item 14885741846.

rs1488574184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57470760 (GRCh38)
7:57530466 (GRCh37)
Canonical SPDI:: NC_000007.14:57470759:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.57470760A>G, NC_000007.13:g.57530466A>G, NW_003571038.1:g.196241A>G, NM_001159279.1:c.*811A>G

Select item 14884721167.

rs1488472116 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:57469846 (GRCh38)
7:57529552 (GRCh37)
Canonical SPDI:: NC_000007.14:57469844:AAA:A
Gene:: ZNF716 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.57469846_57469847del, NC_000007.13:g.57529552_57529553del, NW_003571038.1:g.195327_195328del, NM_001159279.1:c.1385_1386del, NP_001152751.1:p.Lys462fs

Select item 14880311338.

rs1488031133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57462524 (GRCh38)
7:57522230 (GRCh37)
Canonical SPDI:: NC_000007.14:57462523:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.57462524A>G, NC_000007.13:g.57522230A>G, NW_003571038.1:g.188005A>G, NM_001159279.1:c.104A>G, NP_001152751.1:p.His35Arg

Select item 14878371249.

rs1487837124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:57470882 (GRCh38)
7:57530588 (GRCh37)
Canonical SPDI:: NC_000007.14:57470881:G:A
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.57470882G>A, NC_000007.13:g.57530588G>A, NW_003571038.1:g.196363G>A, NM_001159279.1:c.*933G>A

Select item 148757427710.

rs1487574277 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:57471326 (GRCh38)
7:57531032 (GRCh37)
Canonical SPDI:: NC_000007.14:57471325:AA:A
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.57471327del, NC_000007.13:g.57531033del, NW_003571038.1:g.196808del, NM_001159279.1:c.*1378del

Select item 148747219911.

rs1487472199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:57470290 (GRCh38)
7:57529996 (GRCh37)
Canonical SPDI:: NC_000007.14:57470289:G:A
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.57470290G>A, NC_000007.13:g.57529996G>A, NW_003571038.1:g.195771G>A, NM_001159279.1:c.*341G>A

Select item 148705152812.

rs1487051528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:57463111 (GRCh38)
7:57522817 (GRCh37)
Canonical SPDI:: NC_000007.14:57463110:G:C
Gene:: ZNF716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.57463111G>C, NC_000007.13:g.57522817G>C, NW_003571038.1:g.188592G>C, NM_001159279.1:c.205G>C, NP_001152751.1:p.Glu69Gln

Select item 148649170413.

rs1486491704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:57470749 (GRCh38)
7:57530455 (GRCh37)
Canonical SPDI:: NC_000007.14:57470748:A:G,NC_000007.14:57470748:A:T
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.57470749A>G, NC_000007.14:g.57470749A>T, NC_000007.13:g.57530455A>G, NC_000007.13:g.57530455A>T, NW_003571038.1:g.196230A>G, NW_003571038.1:g.196230A>T, NM_001159279.1:c.*800A>G, NM_001159279.1:c.*800A>T

Select item 148639464914.

rs1486394649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:57472735 (GRCh38)
7:57532441 (GRCh37)
Canonical SPDI:: NC_000007.14:57472734:G:T
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.57472735G>T, NC_000007.13:g.57532441G>T, NW_003571038.1:g.198216G>T, NM_001159279.1:c.*2786G>T

Select item 148599273915.

rs1485992739 has merged into rs199647936 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 7:57472852 (GRCh38)
7:57532558 (GRCh37)
Canonical SPDI:: NC_000007.14:57472845:TTTTTTTTT:TTTTTT,NC_000007.14:57472845:TTTTTTTTT:TTTTTTTT,NC_000007.14:57472845:TTTTTTTTT:TTTTTTTTTT
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.01374/69 (1000Genomes)
HGVS:: NC_000007.14:g.57472852_57472854del, NC_000007.14:g.57472854del, NC_000007.14:g.57472854dup, NC_000007.13:g.57532558_57532560del, NC_000007.13:g.57532560del, NC_000007.13:g.57532560dup, NW_003571038.1:g.198333_198335del, NW_003571038.1:g.198335del, NW_003571038.1:g.198335dup, NM_001159279.1:c.*2903_*2905del, NM_001159279.1:c.*2905del, NM_001159279.1:c.*2905dup

Select item 148588081216.

rs1485880812 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 7:57471891 (GRCh38)
7:57531597 (GRCh37)
Canonical SPDI:: NC_000007.14:57471888:AGTAG:AG
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.57471891_57471893del, NC_000007.13:g.57531597_57531599del, NW_003571038.1:g.197372_197374del, NM_001159279.1:c.*1942_*1944del

Select item 148541179517.

rs1485411795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:57473172 (GRCh38)
7:57532878 (GRCh37)
Canonical SPDI:: NC_000007.14:57473171:C:T
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.57473172C>T, NC_000007.13:g.57532878C>T, NW_003571038.1:g.198653C>T, NM_001159279.1:c.*3223C>T

Select item 148464627618.

rs1484646276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57472657 (GRCh38)
7:57532363 (GRCh37)
Canonical SPDI:: NC_000007.14:57472656:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.57472657A>G, NC_000007.13:g.57532363A>G, NW_003571038.1:g.198138A>G, NM_001159279.1:c.*2708A>G

Select item 148435075419.

rs1484350754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57469757 (GRCh38)
7:57529463 (GRCh37)
Canonical SPDI:: NC_000007.14:57469756:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00582/17 (KOREAN)
HGVS:: NC_000007.14:g.57469757A>G, NC_000007.13:g.57529463A>G, NW_003571038.1:g.195238A>G, NM_001159279.1:c.1296A>G

Select item 148366102920.

rs1483661029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:57473075 (GRCh38)
7:57532781 (GRCh37)
Canonical SPDI:: NC_000007.14:57473074:A:G
Gene:: ZNF716 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.57473075A>G, NC_000007.13:g.57532781A>G, NW_003571038.1:g.198556A>G, NM_001159279.1:c.*3126A>G