SNP Links for Nucleotide (Select 759918756) - SNP

Links from Nucleotide

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Select item 14913864161.

rs1491386416 has merged into rs66663076 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:160195662 (GRCh38)
1:160165452 (GRCh37)
Canonical SPDI:: NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCC,NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCCC,NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000001.11:160195652:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: CASQ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.160195662_160195663del, NC_000001.11:g.160195663del, NC_000001.11:g.160195663dup, NC_000001.11:g.160195662_160195663dup, NC_000001.11:g.160195661_160195663dup, NC_000001.11:g.160195663_160195664insCCCCCCCCCCCCCCC, NC_000001.10:g.160165452_160165453del, NC_000001.10:g.160165453del, NC_000001.10:g.160165453dup, NC_000001.10:g.160165452_160165453dup, NC_000001.10:g.160165451_160165453dup, NC_000001.10:g.160165453_160165454insCCCCCCCCCCCCCCC, NG_042040.1:g.10168_10169del, NG_042040.1:g.10169del, NG_042040.1:g.10169dup, NG_042040.1:g.10168_10169dup, NG_042040.1:g.10167_10169dup, NG_042040.1:g.10169_10170insCCCCCCCCCCCCCCC

Select item 14913827982.

rs1491382798 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:160195652 (GRCh38)
1:160165442 (GRCh37)
Canonical SPDI:: NC_000001.11:160195651:GC:
Gene:: CASQ1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.160195652_160195653del, NC_000001.10:g.160165442_160165443del, NG_042040.1:g.10158_10159del

Select item 14913208143.

rs1491320814 has merged into rs59283183 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:160203362 (GRCh38)
1:160173152 (GRCh37)
Canonical SPDI:: NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160203350:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC729867 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.160203362_160203368del, NC_000001.11:g.160203363_160203368del, NC_000001.11:g.160203365_160203368del, NC_000001.11:g.160203366_160203368del, NC_000001.11:g.160203367_160203368del, NC_000001.11:g.160203368del, NC_000001.11:g.160203368dup, NC_000001.11:g.160203367_160203368dup, NC_000001.11:g.160203366_160203368dup, NC_000001.11:g.160203365_160203368dup, NC_000001.11:g.160203364_160203368dup, NC_000001.11:g.160203363_160203368dup, NC_000001.11:g.160203357_160203368dup, NC_000001.11:g.160203368_160203369insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160173152_160173158del, NC_000001.10:g.160173153_160173158del, NC_000001.10:g.160173155_160173158del, NC_000001.10:g.160173156_160173158del, NC_000001.10:g.160173157_160173158del, NC_000001.10:g.160173158del, NC_000001.10:g.160173158dup, NC_000001.10:g.160173157_160173158dup, NC_000001.10:g.160173156_160173158dup, NC_000001.10:g.160173155_160173158dup, NC_000001.10:g.160173154_160173158dup, NC_000001.10:g.160173153_160173158dup, NC_000001.10:g.160173147_160173158dup, NC_000001.10:g.160173158_160173159insTTTTTTTTTTTTTTTTTTT, NG_042040.1:g.17868_17874del, NG_042040.1:g.17869_17874del, NG_042040.1:g.17871_17874del, NG_042040.1:g.17872_17874del, NG_042040.1:g.17873_17874del, NG_042040.1:g.17874del, NG_042040.1:g.17874dup, NG_042040.1:g.17873_17874dup, NG_042040.1:g.17872_17874dup, NG_042040.1:g.17871_17874dup, NG_042040.1:g.17870_17874dup, NG_042040.1:g.17869_17874dup, NG_042040.1:g.17863_17874dup, NG_042040.1:g.17874_17875insTTTTTTTTTTTTTTTTTTT

Select item 14912197194.

rs1491219719 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:160203351 (GRCh38)
1:160173142 (GRCh37)
Canonical SPDI:: NC_000001.11:160203351::A
Gene:: LOC729867 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00006/7 (GnomAD)
HGVS:: NC_000001.11:g.160203351_160203352insA, NC_000001.10:g.160173141_160173142insA, NG_042040.1:g.17857_17858insA

Select item 14907207265.

rs1490720726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160187643 (GRCh38)
1:160157433 (GRCh37)
Canonical SPDI:: NC_000001.11:160187642:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.160187643T>C, NC_000001.10:g.160157433T>C, NG_042040.1:g.2149T>C

Select item 14905100526.

rs1490510052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160188418 (GRCh38)
1:160158208 (GRCh37)
Canonical SPDI:: NC_000001.11:160188417:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160188418T>C, NC_000001.10:g.160158208T>C, NG_042040.1:g.2924T>C

Select item 14904876237.

rs1490487623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:160202413 (GRCh38)
1:160172204 (GRCh37)
Canonical SPDI:: NC_000001.11:160202413:T:TT
Gene:: LOC729867 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160202414dup, NC_000001.10:g.160172204dup, NG_042040.1:g.16920dup, NR_123725.1:n.1363dup

Select item 14904368078.

rs1490436807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160203387 (GRCh38)
1:160173177 (GRCh37)
Canonical SPDI:: NC_000001.11:160203386:G:T
Gene:: PEA15 (Varview), LOC729867 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.01576/46 (KOREAN)
HGVS:: NC_000001.11:g.160203387G>T, NC_000001.10:g.160173177G>T, NG_042040.1:g.17893G>T

Select item 14902719769.

rs1490271976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160203113 (GRCh38)
1:160172903 (GRCh37)
Canonical SPDI:: NC_000001.11:160203112:G:T
Gene:: LOC729867 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160203113G>T, NC_000001.10:g.160172903G>T, NG_042040.1:g.17619G>T

Select item 149019754810.

rs1490197548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160186891 (GRCh38)
1:160156681 (GRCh37)
Canonical SPDI:: NC_000001.11:160186890:G:T
Gene:: ATP1A4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160186891G>T, NC_000001.10:g.160156681G>T, NG_042040.1:g.1397G>T, NM_144699.4:c.*192G>T, NM_144699.3:c.*192G>T, XM_011509582.2:c.*192G>T, XM_011509582.1:c.*192G>T, NM_001001734.2:c.*192G>T, NM_001001734.1:c.*192G>T

Select item 149016505011.

rs1490165050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160201286 (GRCh38)
1:160171076 (GRCh37)
Canonical SPDI:: NC_000001.11:160201285:G:A
Gene:: CASQ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160201286G>A, NC_000001.10:g.160171076G>A, NG_042040.1:g.15792G>A, NM_001231.5:c.1101G>A, NM_001231.4:c.1101G>A

Select item 148990566512.

rs1489905665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:160188637 (GRCh38)
1:160158427 (GRCh37)
Canonical SPDI:: NC_000001.11:160188636:T:G
Gene:: CASQ1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160188637T>G, NC_000001.10:g.160158427T>G, NG_042040.1:g.3143T>G

Select item 148966276913.

rs1489662769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160194812 (GRCh38)
1:160164602 (GRCh37)
Canonical SPDI:: NC_000001.11:160194811:C:T
Gene:: CASQ1 (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_000001.11:g.160194812C>T, NC_000001.10:g.160164602C>T, NG_042040.1:g.9318C>T

Select item 148945969214.

rs1489459692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160191840 (GRCh38)
1:160161630 (GRCh37)
Canonical SPDI:: NC_000001.11:160191839:G:T
Gene:: CASQ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000094/25 (TOPMED)
HGVS:: NC_000001.11:g.160191840G>T, NC_000001.10:g.160161630G>T, NG_042040.1:g.6346G>T

Select item 148925363015.

rs1489253630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160195143 (GRCh38)
1:160164933 (GRCh37)
Canonical SPDI:: NC_000001.11:160195142:C:T
Gene:: CASQ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160195143C>T, NC_000001.10:g.160164933C>T, NG_042040.1:g.9649C>T

Select item 148922203016.

rs1489222030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:160199359 (GRCh38)
1:160169149 (GRCh37)
Canonical SPDI:: NC_000001.11:160199358:C:G,NC_000001.11:160199358:C:T
Gene:: CASQ1 (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_000001.11:g.160199359C>G, NC_000001.11:g.160199359C>T, NC_000001.10:g.160169149C>G, NC_000001.10:g.160169149C>T, NG_042040.1:g.13865C>G, NG_042040.1:g.13865C>T

Select item 148900312517.

rs1489003125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:160185695 (GRCh38)
1:160155485 (GRCh37)
Canonical SPDI:: NC_000001.11:160185694:C:A,NC_000001.11:160185694:C:G,NC_000001.11:160185694:C:T
Gene:: ATP1A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
G=0.003838/7 (Korea1K)
HGVS:: NC_000001.11:g.160185695C>A, NC_000001.11:g.160185695C>G, NC_000001.11:g.160185695C>T, NC_000001.10:g.160155485C>A, NC_000001.10:g.160155485C>G, NC_000001.10:g.160155485C>T, NG_042040.1:g.201C>A, NG_042040.1:g.201C>G, NG_042040.1:g.201C>T

Select item 148894440318.

rs1488944403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:160187012 (GRCh38)
1:160156802 (GRCh37)
Canonical SPDI:: NC_000001.11:160187011:T:A
Gene:: ATP1A4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000001.11:g.160187012T>A, NC_000001.10:g.160156802T>A, NG_042040.1:g.1518T>A

Select item 148892739719.

rs1488927397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160195939 (GRCh38)
1:160165729 (GRCh37)
Canonical SPDI:: NC_000001.11:160195938:T:C
Gene:: CASQ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160195939T>C, NC_000001.10:g.160165729T>C, NG_042040.1:g.10445T>C, NM_001231.5:c.694T>C, NM_001231.4:c.694T>C, NP_001222.3:p.Tyr232His

Select item 148820762020.

rs1488207620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160199408 (GRCh38)
1:160169198 (GRCh37)
Canonical SPDI:: NC_000001.11:160199407:G:A
Gene:: CASQ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.001628/27 (TOMMO)
HGVS:: NC_000001.11:g.160199408G>A, NC_000001.10:g.160169198G>A, NG_042040.1:g.13914G>A

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