SNP Links for Gene (Select 255374) - SNP

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Select item 14908008021.

rs1490800802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100128169 (GRCh38)
7:99725792 (GRCh37)
Canonical SPDI:: NC_000007.14:100128168:C:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100128169C>T, NC_000007.13:g.99725792C>T, XM_005250250.4:c.774C>T, XM_005250250.3:c.774C>T, XM_005250250.2:c.774C>T, XM_005250250.1:c.774C>T, NM_203397.3:c.774C>T, NM_203397.2:c.774C>T, NM_203397.1:c.774C>T

Select item 14907116212.

rs1490711621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100128292 (GRCh38)
7:99725915 (GRCh37)
Canonical SPDI:: NC_000007.14:100128291:G:C
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.000318/5 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.100128292G>C, NC_000007.13:g.99725915G>C, XM_005250250.4:c.*96G>C, XM_005250250.3:c.*96G>C, XM_005250250.2:c.*96G>C, XM_005250250.1:c.*96G>C, NM_203397.3:c.*96G>C, NM_203397.2:c.*96G>C, NM_203397.1:c.*96G>C

Select item 14896901423.

rs1489690142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100126756 (GRCh38)
7:99724379 (GRCh37)
Canonical SPDI:: NC_000007.14:100126755:G:A
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100126756G>A, NC_000007.13:g.99724379G>A, NM_203397.2:c.-337G>A, NM_203397.1:c.-337G>A

Select item 14893886354.

rs1489388635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:100127185 (GRCh38)
7:99724808 (GRCh37)
Canonical SPDI:: NC_000007.14:100127184:C:A,NC_000007.14:100127184:C:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.100127185C>A, NC_000007.14:g.100127185C>T, NC_000007.13:g.99724808C>A, NC_000007.13:g.99724808C>T

Select item 14887825045.

rs1488782504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:100126853 (GRCh38)
7:99724476 (GRCh37)
Canonical SPDI:: NC_000007.14:100126852:G:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100126853G>T, NC_000007.13:g.99724476G>T, NM_203397.2:c.-240G>T, NM_203397.1:c.-240G>T

Select item 14887682466.

rs1488768246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100128804 (GRCh38)
7:99726427 (GRCh37)
Canonical SPDI:: NC_000007.14:100128803:A:C
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00035/6 (TOMMO)
C=0.00382/7 (Korea1K)
C=0.04247/124 (KOREAN)
HGVS:: NC_000007.14:g.100128804A>C, NC_000007.13:g.99726427A>C

Select item 14885451997.

rs1488545199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:100127606 (GRCh38)
7:99725229 (GRCh37)
Canonical SPDI:: NC_000007.14:100127605:G:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100127606G>T, NC_000007.13:g.99725229G>T, XM_005250250.4:c.211G>T, XM_005250250.3:c.211G>T, XM_005250250.2:c.211G>T, XM_005250250.1:c.211G>T, NM_203397.3:c.211G>T, NM_203397.2:c.211G>T, NM_203397.1:c.211G>T, XP_005250307.1:p.Ala71Ser, NP_981942.1:p.Ala71Ser

Select item 14882346828.

rs1488234682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100125978 (GRCh38)
7:99723601 (GRCh37)
Canonical SPDI:: NC_000007.14:100125977:A:C
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100125978A>C, NC_000007.13:g.99723601A>C

Select item 14877939669.

rs1487793966 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:100126185 (GRCh38)
7:99723808 (GRCh37)
Canonical SPDI:: NC_000007.14:100126184:C:
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100126185del, NC_000007.13:g.99723808del

Select item 148774341510.

rs1487743415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100126909 (GRCh38)
7:99724532 (GRCh37)
Canonical SPDI:: NC_000007.14:100126908:G:C
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_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_000007.14:g.100126909G>C, NC_000007.13:g.99724532G>C, NM_203397.2:c.-184G>C, NM_203397.1:c.-184G>C

Select item 148756292011.

rs1487562920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100127891 (GRCh38)
7:99725514 (GRCh37)
Canonical SPDI:: NC_000007.14:100127890:A:G
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100127891A>G, NC_000007.13:g.99725514A>G, XM_005250250.4:c.496A>G, XM_005250250.3:c.496A>G, XM_005250250.2:c.496A>G, XM_005250250.1:c.496A>G, NM_203397.3:c.496A>G, NM_203397.2:c.496A>G, NM_203397.1:c.496A>G, XP_005250307.1:p.Thr166Ala, NP_981942.1:p.Thr166Ala

Select item 148710125812.

rs1487101258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100127349 (GRCh38)
7:99724972 (GRCh37)
Canonical SPDI:: NC_000007.14:100127348:C:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.100127349C>T, NC_000007.13:g.99724972C>T

Select item 148615518513.

rs1486155185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100125880 (GRCh38)
7:99723503 (GRCh37)
Canonical SPDI:: NC_000007.14:100125879:C:G,NC_000007.14:100125879:C:T
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.100125880C>G, NC_000007.14:g.100125880C>T, NC_000007.13:g.99723503C>G, NC_000007.13:g.99723503C>T

Select item 148610844314.

rs1486108443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100126606 (GRCh38)
7:99724229 (GRCh37)
Canonical SPDI:: NC_000007.14:100126605:G:C
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,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_000007.14:g.100126606G>C, NC_000007.13:g.99724229G>C

Select item 148588305315.

rs1485883053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100128407 (GRCh38)
7:99726030 (GRCh37)
Canonical SPDI:: NC_000007.14:100128406:C:T
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100128407C>T, NC_000007.13:g.99726030C>T, XM_005250250.4:c.*211C>T, XM_005250250.3:c.*211C>T, XM_005250250.2:c.*211C>T, XM_005250250.1:c.*211C>T, NM_203397.3:c.*211C>T, NM_203397.2:c.*211C>T, NM_203397.1:c.*211C>T

Select item 148575088116.

rs1485750881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100125338 (GRCh38)
7:99722961 (GRCh37)
Canonical SPDI:: NC_000007.14:100125337:C:T
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_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_000007.14:g.100125338C>T, NC_000007.13:g.99722961C>T, NM_152755.2:c.*450C>T, NM_152755.1:c.*450C>T

Select item 148526027817.

rs1485260278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:100125137 (GRCh38)
7:99722760 (GRCh37)
Canonical SPDI:: NC_000007.14:100125136:A:C,NC_000007.14:100125136:A:G,NC_000007.14:100125136:A:T
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100125137A>C, NC_000007.14:g.100125137A>G, NC_000007.14:g.100125137A>T, NC_000007.13:g.99722760A>C, NC_000007.13:g.99722760A>G, NC_000007.13:g.99722760A>T, NM_152755.2:c.*249A>C, NM_152755.2:c.*249A>G, NM_152755.2:c.*249A>T, NM_152755.1:c.*249A>C, NM_152755.1:c.*249A>G, NM_152755.1:c.*249A>T

Select item 148363420618.

rs1483634206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100126176 (GRCh38)
7:99723799 (GRCh37)
Canonical SPDI:: NC_000007.14:100126175:A:C
Gene:: TAF6 (Varview), MBLAC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100126176A>C, NC_000007.13:g.99723799A>C

Select item 148303717019.

rs1483037170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100125979 (GRCh38)
7:99723602 (GRCh37)
Canonical SPDI:: NC_000007.14:100125978:G:A
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100125979G>A, NC_000007.13:g.99723602G>A

Select item 148289883920.

rs1482898839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100125465 (GRCh38)
7:99723088 (GRCh37)
Canonical SPDI:: NC_000007.14:100125464:A:G
Gene:: TAF6 (Varview), CNPY4 (Varview), MBLAC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100125465A>G, NC_000007.13:g.99723088A>G, NM_152755.2:c.*577A>G, NM_152755.1:c.*577A>G