SNP Links for Gene (Select 4909) - SNP

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Select item 14910638961.

rs1491063896 has merged into rs34534089 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 19:49063023 (GRCh38)
19:49566280 (GRCh37)
Canonical SPDI:: NC_000019.10:49063012:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:49063012:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:49063012:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:49063012:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NTF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
T=0.075/3 (GENOME_DK)
T=0.159396/95 (NorthernSweden)
T=0.210863/1056 (1000Genomes)
HGVS:: NC_000019.10:g.49063023_49063024del, NC_000019.10:g.49063024del, NC_000019.10:g.49063024dup, NC_000019.10:g.49063023_49063024dup, NC_000019.9:g.49566280_49566281del, NC_000019.9:g.49566281del, NC_000019.9:g.49566281dup, NC_000019.9:g.49566280_49566281dup, NG_016289.1:g.5854_5855del, NG_016289.1:g.5855del, NG_016289.1:g.5855dup, NG_016289.1:g.5854_5855dup

Select item 14902760772.

rs1490276077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:49060031 (GRCh38)
19:49563288 (GRCh37)
Canonical SPDI:: NC_000019.10:49060030:C:A,NC_000019.10:49060030:C:T
Gene:: NTF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.49060031C>A, NC_000019.10:g.49060031C>T, NC_000019.9:g.49563288C>A, NC_000019.9:g.49563288C>T, NG_016289.1:g.8837G>T, NG_016289.1:g.8837G>A

Select item 14898899163.

rs1489889916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49062623 (GRCh38)
19:49565880 (GRCh37)
Canonical SPDI:: NC_000019.10:49062622:A:C
Gene:: NTF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49062623A>C, NC_000019.9:g.49565880A>C, NG_016289.1:g.6245T>G

Select item 14896427704.

rs1489642770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49060215 (GRCh38)
19:49563472 (GRCh37)
Canonical SPDI:: NC_000019.10:49060214:T:C
Gene:: NTF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49060215T>C, NC_000019.9:g.49563472T>C, NG_016289.1:g.8653A>G

Select item 14889116535.

rs1488911653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49061454 (GRCh38)
19:49564711 (GRCh37)
Canonical SPDI:: NC_000019.10:49061453:C:T
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061454C>T, NC_000019.9:g.49564711C>T, NG_016289.1:g.7414G>A, NM_006179.5:c.544G>A, NM_006179.4:c.544G>A, NM_001395489.1:c.544G>A, XM_011527009.3:c.544G>A, XM_011527009.2:c.544G>A, XM_011527009.1:c.544G>A, XM_011527008.3:c.574G>A, XM_011527008.2:c.574G>A, XM_011527008.1:c.574G>A, XM_047438892.1:c.544G>A, XM_047438891.1:c.544G>A, XR_001753694.1:n.589G>A, XR_001753693.1:n.589G>A, NP_006170.1:p.Ala182Thr, NP_001382418.1:p.Ala182Thr, XP_011525311.1:p.Ala182Thr, XP_011525310.1:p.Ala192Thr, XP_047294848.1:p.Ala182Thr, XP_047294847.1:p.Ala182Thr

Select item 14886836926.

rs1488683692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49064292 (GRCh38)
19:49567549 (GRCh37)
Canonical SPDI:: NC_000019.10:49064291:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49064292G>A, NC_000019.9:g.49567549G>A, NG_016289.1:g.4576C>T, NM_006179.5:c.-566C>T, XM_011527009.3:c.-571C>T, XM_011527009.2:c.-571C>T, XM_011527009.1:c.-571C>T

Select item 14884738277.

rs1488473827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49060957 (GRCh38)
19:49564214 (GRCh37)
Canonical SPDI:: NC_000019.10:49060956:C:G
Gene:: NTF4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49060957C>G, NC_000019.9:g.49564214C>G, NG_016289.1:g.7911G>C

Select item 14883662788.

rs1488366278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:49062085 (GRCh38)
19:49565342 (GRCh37)
Canonical SPDI:: NC_000019.10:49062084:A:T
Gene:: NTF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.49062085A>T, NC_000019.9:g.49565342A>T, NG_016289.1:g.6783T>A

Select item 14880197649.

rs1488019764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49063514 (GRCh38)
19:49566771 (GRCh37)
Canonical SPDI:: NC_000019.10:49063513:T:C
Gene:: NTF4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49063514T>C, NC_000019.9:g.49566771T>C, NG_016289.1:g.5354A>G

Select item 148778556810.

rs1487785568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:49063882 (GRCh38)
19:49567139 (GRCh37)
Canonical SPDI:: NC_000019.10:49063881:G:C,NC_000019.10:49063881:G:T
Gene:: NTF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49063882G>C, NC_000019.10:g.49063882G>T, NC_000019.9:g.49567139G>C, NC_000019.9:g.49567139G>T, NG_016289.1:g.4986C>G, NG_016289.1:g.4986C>A, NM_006179.5:c.-156C>G, NM_006179.5:c.-156C>A, XM_011527009.3:c.-161C>G, XM_011527009.3:c.-161C>A, XM_011527009.2:c.-161C>G, XM_011527009.2:c.-161C>A, XM_011527009.1:c.-161C>G, XM_011527009.1:c.-161C>A

Select item 148777645411.

rs1487776454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49057886 (GRCh38)
19:49561143 (GRCh37)
Canonical SPDI:: NC_000019.10:49057885:C:G
Gene:: NTF4 (Varview), CGB7 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000024/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49057886C>G, NC_000019.9:g.49561143C>G

Select item 148758293212.

rs1487582932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49061592 (GRCh38)
19:49564849 (GRCh37)
Canonical SPDI:: NC_000019.10:49061591:A:C,NC_000019.10:49061591:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49061592A>C, NC_000019.10:g.49061592A>G, NC_000019.9:g.49564849A>C, NC_000019.9:g.49564849A>G, NG_016289.1:g.7276T>G, NG_016289.1:g.7276T>C, NM_006179.5:c.406T>G, NM_006179.5:c.406T>C, NM_006179.4:c.406T>G, NM_006179.4:c.406T>C, NM_001395489.1:c.406T>G, NM_001395489.1:c.406T>C, XM_011527009.3:c.406T>G, XM_011527009.3:c.406T>C, XM_011527009.2:c.406T>G, XM_011527009.2:c.406T>C, XM_011527009.1:c.406T>G, XM_011527009.1:c.406T>C, XM_011527008.3:c.436T>G, XM_011527008.3:c.436T>C, XM_011527008.2:c.436T>G, XM_011527008.2:c.436T>C, XM_011527008.1:c.436T>G, XM_011527008.1:c.436T>C, XM_047438892.1:c.406T>G, XM_047438892.1:c.406T>C, XM_047438891.1:c.406T>G, XM_047438891.1:c.406T>C, XR_001753694.1:n.451T>G, XR_001753694.1:n.451T>C, XR_001753693.1:n.451T>G, XR_001753693.1:n.451T>C, NP_006170.1:p.Phe136Val, NP_006170.1:p.Phe136Leu, NP_001382418.1:p.Phe136Val, NP_001382418.1:p.Phe136Leu, XP_011525311.1:p.Phe136Val, XP_011525311.1:p.Phe136Leu, XP_011525310.1:p.Phe146Val, XP_011525310.1:p.Phe146Leu, XP_047294848.1:p.Phe136Val, XP_047294848.1:p.Phe136Leu, XP_047294847.1:p.Phe136Val, XP_047294847.1:p.Phe136Leu

Select item 148728523613.

rs1487285236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49066850 (GRCh38)
19:49570107 (GRCh37)
Canonical SPDI:: NC_000019.10:49066849:C:T
Gene:: NTF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49066850C>T, NC_000019.9:g.49570107C>T, NG_016289.1:g.2018G>A

Select item 148684427414.

rs1486844274 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 19:49065920 (GRCh38)
19:49569177 (GRCh37)
Canonical SPDI:: NC_000019.10:49065919:CCCCCCC:CCCCCC,NC_000019.10:49065919:CCCCCCC:CCCCCCCC
Gene:: NTF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.49065926del, NC_000019.10:g.49065926dup, NC_000019.9:g.49569183del, NC_000019.9:g.49569183dup, NG_016289.1:g.2948del, NG_016289.1:g.2948dup

Select item 148684115515.

rs1486841155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49063975 (GRCh38)
19:49567232 (GRCh37)
Canonical SPDI:: NC_000019.10:49063974:G:T
Gene:: NTF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49063975G>T, NC_000019.9:g.49567232G>T, NG_016289.1:g.4893C>A, NM_006179.5:c.-249C>A, XM_011527009.3:c.-254C>A, XM_011527009.2:c.-254C>A, XM_011527009.1:c.-254C>A

Select item 148678340616.

rs1486783406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49065819 (GRCh38)
19:49569076 (GRCh37)
Canonical SPDI:: NC_000019.10:49065818:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49065819G>A, NC_000019.9:g.49569076G>A, NG_016289.1:g.3049C>T

Select item 148660381317.

rs1486603813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49059262 (GRCh38)
19:49562519 (GRCh37)
Canonical SPDI:: NC_000019.10:49059261:T:G
Gene:: NTF4 (Varview), CGB7 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49059262T>G, NC_000019.9:g.49562519T>G, NG_016289.1:g.9606A>C

Select item 148646127118.

rs1486461271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49066700 (GRCh38)
19:49569957 (GRCh37)
Canonical SPDI:: NC_000019.10:49066699:C:G
Gene:: NTF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000397/7 (TOMMO)
HGVS:: NC_000019.10:g.49066700C>G, NC_000019.9:g.49569957C>G, NG_016289.1:g.2168G>C

Select item 148577666419.

rs1485776664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49065055 (GRCh38)
19:49568312 (GRCh37)
Canonical SPDI:: NC_000019.10:49065054:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.49065055G>A, NC_000019.9:g.49568312G>A, NG_016289.1:g.3813C>T

Select item 148508318220.

rs1485083182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49064585 (GRCh38)
19:49567842 (GRCh37)
Canonical SPDI:: NC_000019.10:49064584:G:A,NC_000019.10:49064584:G:T
Gene:: NTF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49064585G>A, NC_000019.10:g.49064585G>T, NC_000019.9:g.49567842G>A, NC_000019.9:g.49567842G>T, NG_016289.1:g.4283C>T, NG_016289.1:g.4283C>A, NM_006179.5:c.-859C>T, NM_006179.5:c.-859C>A, XM_011527009.3:c.-864C>T, XM_011527009.3:c.-864C>A, XM_011527009.2:c.-864C>T, XM_011527009.2:c.-864C>A, XM_011527009.1:c.-864C>T, XM_011527009.1:c.-864C>A

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