SNP Links for Nucleotide (Select 33186886) - SNP

Links from Nucleotide

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Select item 14910115311.

rs1491011531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACCC [Show Flanks]
Chromosome:: 6:28504049 (GRCh38)
6:28471827 (GRCh37)
Canonical SPDI:: NC_000006.12:28504049:C:CACACCC
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CACACCC=0./0 (ALFA)
CACACC=0./0 (GnomAD)
HGVS:: NC_000006.12:g.28504050CA[2]CCC[1], NC_000006.11:g.28471827CA[2]CCC[1], NM_182701.1:c.*242_*243insGGTGTG

Select item 14893729292.

rs1489372929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:28505714 (GRCh38)
6:28473491 (GRCh37)
Canonical SPDI:: NC_000006.12:28505713:T:G
Gene:: GPX6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.28505714T>G, NC_000006.11:g.28473491T>G, NM_182701.1:c.448A>C, NP_874360.1:p.Thr150Pro

Select item 14880068253.

rs1488006825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:28503950 (GRCh38)
6:28471727 (GRCh37)
Canonical SPDI:: NC_000006.12:28503949:T:G
Gene:: GPX6 (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_000006.12:g.28503950T>G, NC_000006.11:g.28471727T>G, NM_182701.1:c.*342A>C

Select item 14870083364.

rs1487008336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:28503341 (GRCh38)
6:28471118 (GRCh37)
Canonical SPDI:: NC_000006.12:28503340:G:C
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28503341G>C, NC_000006.11:g.28471118G>C, NM_182701.1:c.*951C>G

Select item 14846320765.

rs1484632076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28515664 (GRCh38)
6:28483441 (GRCh37)
Canonical SPDI:: NC_000006.12:28515663:T:C
Gene:: GPX6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.28515664T>C, NC_000006.11:g.28483441T>C, NT_113891.3:g.5545T>C, NT_113891.2:g.5645T>C, NM_182701.1:c.80A>G, NP_874360.1:p.Asn27Ser

Select item 14829112326.

rs1482911232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:28515663 (GRCh38)
6:28483440 (GRCh37)
Canonical SPDI:: NC_000006.12:28515662:A:C
Gene:: GPX6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28515663A>C, NC_000006.11:g.28483440A>C, NT_113891.3:g.5544A>C, NT_113891.2:g.5644A>C, NM_182701.1:c.81T>G, NP_874360.1:p.Asn27Lys

Select item 14826319607.

rs1482631960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28504230 (GRCh38)
6:28472007 (GRCh37)
Canonical SPDI:: NC_000006.12:28504229:T:C
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.28504230T>C, NC_000006.11:g.28472007T>C, NM_182701.1:c.*62A>G

Select item 14803971758.

rs1480397175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:28510868 (GRCh38)
6:28478645 (GRCh37)
Canonical SPDI:: NC_000006.12:28510867:C:A,NC_000006.12:28510867:C:G
Gene:: GPX6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28510868C>A, NC_000006.12:g.28510868C>G, NC_000006.11:g.28478645C>A, NC_000006.11:g.28478645C>G, NT_113891.3:g.749C>A, NT_113891.3:g.749C>G, NT_113891.2:g.849C>A, NT_113891.2:g.849C>G, NM_182701.1:c.124G>T, NM_182701.1:c.124G>C, NP_874360.1:p.Glu42Ter, NP_874360.1:p.Glu42Gln

Select item 14782500239.

rs1478250023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:28503933 (GRCh38)
6:28471710 (GRCh37)
Canonical SPDI:: NC_000006.12:28503932:T:C,NC_000006.12:28503932:T:G
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000006.12:g.28503933T>C, NC_000006.12:g.28503933T>G, NC_000006.11:g.28471710T>C, NC_000006.11:g.28471710T>G, NM_182701.1:c.*359A>G, NM_182701.1:c.*359A>C

Select item 147774622910.

rs1477746229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:28503312 (GRCh38)
6:28471089 (GRCh37)
Canonical SPDI:: NC_000006.12:28503311:T:A
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28503312T>A, NC_000006.11:g.28471089T>A, NM_182701.1:c.*980A>T

Select item 147752350411.

rs1477523504 has merged into rs67996303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:28504037 (GRCh38)
6:28471814 (GRCh37)
Canonical SPDI:: NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.06797/153 (1000Genomes)
HGVS:: NC_000006.12:g.28504023AC[7], NC_000006.12:g.28504023AC[8], NC_000006.12:g.28504023AC[9], NC_000006.12:g.28504023AC[10], NC_000006.12:g.28504023AC[11], NC_000006.12:g.28504023AC[12], NC_000006.12:g.28504023AC[13], NC_000006.12:g.28504023AC[15], NC_000006.12:g.28504023AC[16], NC_000006.12:g.28504023AC[17], NC_000006.12:g.28504023AC[18], NC_000006.12:g.28504023AC[19], NC_000006.11:g.28471800AC[7], NC_000006.11:g.28471800AC[8], NC_000006.11:g.28471800AC[9], NC_000006.11:g.28471800AC[10], NC_000006.11:g.28471800AC[11], NC_000006.11:g.28471800AC[12], NC_000006.11:g.28471800AC[13], NC_000006.11:g.28471800AC[15], NC_000006.11:g.28471800AC[16], NC_000006.11:g.28471800AC[17], NC_000006.11:g.28471800AC[18], NC_000006.11:g.28471800AC[19], NM_182701.1:c.*242GT[7], NM_182701.1:c.*242GT[8], NM_182701.1:c.*242GT[9], NM_182701.1:c.*242GT[10], NM_182701.1:c.*242GT[11], NM_182701.1:c.*242GT[12], NM_182701.1:c.*242GT[13], NM_182701.1:c.*242GT[15], NM_182701.1:c.*242GT[16], NM_182701.1:c.*242GT[17], NM_182701.1:c.*242GT[18], NM_182701.1:c.*242GT[19]

Select item 147729764512.

rs1477297645 has merged into rs67996303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:28504037 (GRCh38)
6:28471814 (GRCh37)
Canonical SPDI:: NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:28504022:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.06797/153 (1000Genomes)
HGVS:: NC_000006.12:g.28504023AC[7], NC_000006.12:g.28504023AC[8], NC_000006.12:g.28504023AC[9], NC_000006.12:g.28504023AC[10], NC_000006.12:g.28504023AC[11], NC_000006.12:g.28504023AC[12], NC_000006.12:g.28504023AC[13], NC_000006.12:g.28504023AC[15], NC_000006.12:g.28504023AC[16], NC_000006.12:g.28504023AC[17], NC_000006.12:g.28504023AC[18], NC_000006.12:g.28504023AC[19], NC_000006.11:g.28471800AC[7], NC_000006.11:g.28471800AC[8], NC_000006.11:g.28471800AC[9], NC_000006.11:g.28471800AC[10], NC_000006.11:g.28471800AC[11], NC_000006.11:g.28471800AC[12], NC_000006.11:g.28471800AC[13], NC_000006.11:g.28471800AC[15], NC_000006.11:g.28471800AC[16], NC_000006.11:g.28471800AC[17], NC_000006.11:g.28471800AC[18], NC_000006.11:g.28471800AC[19], NM_182701.1:c.*242GT[7], NM_182701.1:c.*242GT[8], NM_182701.1:c.*242GT[9], NM_182701.1:c.*242GT[10], NM_182701.1:c.*242GT[11], NM_182701.1:c.*242GT[12], NM_182701.1:c.*242GT[13], NM_182701.1:c.*242GT[15], NM_182701.1:c.*242GT[16], NM_182701.1:c.*242GT[17], NM_182701.1:c.*242GT[18], NM_182701.1:c.*242GT[19]

Select item 147661119513.

rs1476611195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28503420 (GRCh38)
6:28471197 (GRCh37)
Canonical SPDI:: NC_000006.12:28503419:C:T
Gene:: GPX6 (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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.28503420C>T, NC_000006.11:g.28471197C>T, NM_182701.1:c.*872G>A

Select item 147454995614.

rs1474549956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28504130 (GRCh38)
6:28471907 (GRCh37)
Canonical SPDI:: NC_000006.12:28504129:A:G
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28504130A>G, NC_000006.11:g.28471907A>G, NM_182701.1:c.*162T>C

Select item 147353965615.

rs1473539656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28506328 (GRCh38)
6:28474105 (GRCh37)
Canonical SPDI:: NC_000006.12:28506327:T:C
Gene:: GPX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28506328T>C, NC_000006.11:g.28474105T>C, NM_182701.1:c.343A>G, NP_874360.1:p.Ile115Val

Select item 147352674616.

rs1473526746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28504464 (GRCh38)
6:28472241 (GRCh37)
Canonical SPDI:: NC_000006.12:28504463:G:A
Gene:: GPX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28504464G>A, NC_000006.11:g.28472241G>A, NM_182701.1:c.494C>T, NP_874360.1:p.Ser165Leu

Select item 147320866817.

rs1473208668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:28504408 (GRCh38)
6:28472185 (GRCh37)
Canonical SPDI:: NC_000006.12:28504407:C:G
Gene:: GPX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28504408C>G, NC_000006.11:g.28472185C>G, NM_182701.1:c.550G>C, NP_874360.1:p.Glu184Gln

Select item 147025385518.

rs1470253855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28515688 (GRCh38)
6:28483465 (GRCh37)
Canonical SPDI:: NC_000006.12:28515687:G:A
Gene:: GPX6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28515688G>A, NC_000006.11:g.28483465G>A, NT_113891.3:g.5569G>A, NT_113891.2:g.5669G>A, NM_182701.1:c.56C>T, NP_874360.1:p.Ala19Val

Select item 146700482319.

rs1467004823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:28504022 (GRCh38)
6:28471799 (GRCh37)
Canonical SPDI:: NC_000006.12:28504021:A:C,NC_000006.12:28504021:A:T
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (KOREAN)
HGVS:: NC_000006.12:g.28504022A>C, NC_000006.12:g.28504022A>T, NC_000006.11:g.28471799A>C, NC_000006.11:g.28471799A>T, NM_182701.1:c.*270T>G, NM_182701.1:c.*270T>A

Select item 146459606120.

rs1464596061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:28504154 (GRCh38)
6:28471931 (GRCh37)
Canonical SPDI:: NC_000006.12:28504153:G:T
Gene:: GPX6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.28504154G>T, NC_000006.11:g.28471931G>T, NM_182701.1:c.*138C>A

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