SNP Links for Gene (Select 5458) - SNP

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Select item 14915843401.

rs1491584340 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:146637526 (GRCh38)
4:147558678 (GRCh37)
Canonical SPDI:: NC_000004.12:146637525:TA:
Gene:: POU4F2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.146637526_146637527del, NC_000004.11:g.147558678_147558679del

Select item 14902297912.

rs1490229791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:146638959 (GRCh38)
4:147560111 (GRCh37)
Canonical SPDI:: NC_000004.12:146638958:G:C
Gene:: POU4F2 (Varview)
Functional Consequence:: 5_prime_UTR_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_000004.12:g.146638959G>C, NC_000004.11:g.147560111G>C, NM_004575.3:c.-182G>C, NM_004575.2:c.-182G>C

Select item 14897596043.

rs1489759604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:146641669 (GRCh38)
4:147562821 (GRCh37)
Canonical SPDI:: NC_000004.12:146641668:A:G
Gene:: POU4F2 (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_000004.12:g.146641669A>G, NC_000004.11:g.147562821A>G, NM_004575.3:c.*861A>G, NM_004575.2:c.*861A>G

Select item 14896461914.

rs1489646191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:146642562 (GRCh38)
4:147563714 (GRCh37)
Canonical SPDI:: NC_000004.12:146642561:G:T
Gene:: POU4F2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000004.12:g.146642562G>T, NC_000004.11:g.147563714G>T

Select item 14888278085.

rs1488827808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:146640424 (GRCh38)
4:147561576 (GRCh37)
Canonical SPDI:: NC_000004.12:146640423:G:A
Gene:: POU4F2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.146640424G>A, NC_000004.11:g.147561576G>A, NM_004575.3:c.846G>A, NM_004575.2:c.846G>A

Select item 14884173676.

rs1488417367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:146640232 (GRCh38)
4:147561384 (GRCh37)
Canonical SPDI:: NC_000004.12:146640231:C:A,NC_000004.12:146640231:C:G,NC_000004.12:146640231:C:T
Gene:: POU4F2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.00002/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.146640232C>A, NC_000004.12:g.146640232C>G, NC_000004.12:g.146640232C>T, NC_000004.11:g.147561384C>A, NC_000004.11:g.147561384C>G, NC_000004.11:g.147561384C>T, NM_004575.3:c.654C>A, NM_004575.3:c.654C>G, NM_004575.3:c.654C>T, NM_004575.2:c.654C>A, NM_004575.2:c.654C>G, NM_004575.2:c.654C>T, NP_004566.2:p.His218Gln, NP_004566.2:p.His218Gln

Select item 14883060417.

rs1488306041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGC,CGC [Show Flanks]
Chromosome:: 4:146639330 (GRCh38)
4:147560483 (GRCh37)
Canonical SPDI:: NC_000004.12:146639330:GC:GCAGC,NC_000004.12:146639330:GC:GCCGC
Gene:: POU4F2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by cluster
HGVS:: NC_000004.12:g.146639332_146639333insAGC, NC_000004.12:g.146639332_146639333insCGC, NC_000004.11:g.147560484_147560485insAGC, NC_000004.11:g.147560484_147560485insCGC, NM_004575.3:c.192_193insAGC, NM_004575.3:c.192_193insCGC, NM_004575.2:c.192_193insAGC, NM_004575.2:c.192_193insCGC, NP_004566.2:p.Gly65_Gly66insSer, NP_004566.2:p.Gly65_Gly66insArg

Select item 14877928268.

rs1487792826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:146640749 (GRCh38)
4:147561901 (GRCh37)
Canonical SPDI:: NC_000004.12:146640748:G:C,NC_000004.12:146640748:G:T
Gene:: POU4F2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.146640749G>C, NC_000004.12:g.146640749G>T, NC_000004.11:g.147561901G>C, NC_000004.11:g.147561901G>T, NM_004575.3:c.1171G>C, NM_004575.3:c.1171G>T, NM_004575.2:c.1171G>C, NM_004575.2:c.1171G>T, NP_004566.2:p.Val391Leu, NP_004566.2:p.Val391Phe

Select item 14868581449.

rs1486858144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:146637708 (GRCh38)
4:147558860 (GRCh37)
Canonical SPDI:: NC_000004.12:146637707:C:T
Gene:: POU4F2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.146637708C>T, NC_000004.11:g.147558860C>T

Select item 148650366510.

rs1486503665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:146637607 (GRCh38)
4:147558759 (GRCh37)
Canonical SPDI:: NC_000004.12:146637606:C:T
Gene:: POU4F2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.146637607C>T, NC_000004.11:g.147558759C>T

Select item 148606769211.

rs1486067692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:146642811 (GRCh38)
4:147563963 (GRCh37)
Canonical SPDI:: NC_000004.12:146642810:G:T
Gene:: POU4F2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.146642811G>T, NC_000004.11:g.147563963G>T

Select item 148590447212.

rs1485904472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:146642273 (GRCh38)
4:147563425 (GRCh37)
Canonical SPDI:: NC_000004.12:146642272:A:G
Gene:: POU4F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.146642273A>G, NC_000004.11:g.147563425A>G, NM_004575.3:c.*1465A>G, NM_004575.2:c.*1465A>G

Select item 148481072313.

rs1484810723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:146639992 (GRCh38)
4:147561144 (GRCh37)
Canonical SPDI:: NC_000004.12:146639991:G:A
Gene:: POU4F2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.146639992G>A, NC_000004.11:g.147561144G>A, NM_004575.3:c.414G>A, NM_004575.2:c.414G>A

Select item 148437604614.

rs1484376046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:146638432 (GRCh38)
4:147559584 (GRCh37)
Canonical SPDI:: NC_000004.12:146638431:G:A,NC_000004.12:146638431:G:T
Gene:: POU4F2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.146638432G>A, NC_000004.12:g.146638432G>T, NC_000004.11:g.147559584G>A, NC_000004.11:g.147559584G>T

Select item 148416008815.

rs1484160088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:146641060 (GRCh38)
4:147562212 (GRCh37)
Canonical SPDI:: NC_000004.12:146641059:C:T
Gene:: POU4F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.146641060C>T, NC_000004.11:g.147562212C>T, NM_004575.3:c.*252C>T, NM_004575.2:c.*252C>T

Select item 148413738816.

rs1484137388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:146641438 (GRCh38)
4:147562590 (GRCh37)
Canonical SPDI:: NC_000004.12:146641437:A:G
Gene:: POU4F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.146641438A>G, NC_000004.11:g.147562590A>G, NM_004575.3:c.*630A>G, NM_004575.2:c.*630A>G

Select item 148410764917.

rs1484107649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:146641917 (GRCh38)
4:147563069 (GRCh37)
Canonical SPDI:: NC_000004.12:146641916:A:C
Gene:: POU4F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.146641917A>C, NC_000004.11:g.147563069A>C, NM_004575.3:c.*1109A>C, NM_004575.2:c.*1109A>C

Select item 148402454618.

rs1484024546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:146642373 (GRCh38)
4:147563525 (GRCh37)
Canonical SPDI:: NC_000004.12:146642372:T:G
Gene:: POU4F2 (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_000004.12:g.146642373T>G, NC_000004.11:g.147563525T>G, NM_004575.3:c.*1565T>G, NM_004575.2:c.*1565T>G

Select item 148241287019.

rs1482412870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:146641646 (GRCh38)
4:147562798 (GRCh37)
Canonical SPDI:: NC_000004.12:146641645:T:C
Gene:: POU4F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.146641646T>C, NC_000004.11:g.147562798T>C, NM_004575.3:c.*838T>C, NM_004575.2:c.*838T>C

Select item 148231159820.

rs1482311598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:146638508 (GRCh38)
4:147559660 (GRCh37)
Canonical SPDI:: NC_000004.12:146638507:G:C
Gene:: POU4F2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.146638508G>C, NC_000004.11:g.147559660G>C

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