SNP Links for Nucleotide (Select 1083260011) - SNP - NCBI

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Select item 14915218081.

rs1491521808 has merged into rs3073750 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:99279474 (GRCh38)
6:99727350 (GRCh37)
Canonical SPDI:: NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:99279463:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: FAXC (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.48561/1063 (1000Genomes)
HGVS:: NC_000006.12:g.99279474_99279475del, NC_000006.12:g.99279475del, NC_000006.12:g.99279475dup, NC_000006.12:g.99279474_99279475dup, NC_000006.12:g.99279473_99279475dup, NC_000006.12:g.99279472_99279475dup, NC_000006.11:g.99727350_99727351del, NC_000006.11:g.99727351del, NC_000006.11:g.99727351dup, NC_000006.11:g.99727350_99727351dup, NC_000006.11:g.99727349_99727351dup, NC_000006.11:g.99727348_99727351dup, NG_051943.1:g.75846_75847del, NG_051943.1:g.75847del, NG_051943.1:g.75847dup, NG_051943.1:g.75846_75847dup, NG_051943.1:g.75845_75847dup, NG_051943.1:g.75844_75847dup, NM_032511.4:c.*1699_*1700del, NM_032511.4:c.*1700del, NM_032511.4:c.*1700dup, NM_032511.4:c.*1699_*1700dup, NM_032511.4:c.*1698_*1700dup, NM_032511.4:c.*1697_*1700dup, NM_032511.3:c.*1699_*1700del, NM_032511.3:c.*1700del, NM_032511.3:c.*1700dup, NM_032511.3:c.*1699_*1700dup, NM_032511.3:c.*1698_*1700dup, NM_032511.3:c.*1697_*1700dup, NM_032511.2:c.*1699_*1700del, NM_032511.2:c.*1700del, NM_032511.2:c.*1700dup, NM_032511.2:c.*1699_*1700dup, NM_032511.2:c.*1698_*1700dup, NM_032511.2:c.*1697_*1700dup, NM_001346531.2:c.*1699_*1700del, NM_001346531.2:c.*1700del, NM_001346531.2:c.*1700dup, NM_001346531.2:c.*1699_*1700dup, NM_001346531.2:c.*1698_*1700dup, NM_001346531.2:c.*1697_*1700dup, NM_001346531.1:c.*1699_*1700del, NM_001346531.1:c.*1700del, NM_001346531.1:c.*1700dup, NM_001346531.1:c.*1699_*1700dup, NM_001346531.1:c.*1698_*1700dup, NM_001346531.1:c.*1697_*1700dup, NM_001346530.2:c.*1699_*1700del, NM_001346530.2:c.*1700del, NM_001346530.2:c.*1700dup, NM_001346530.2:c.*1699_*1700dup, NM_001346530.2:c.*1698_*1700dup, NM_001346530.2:c.*1697_*1700dup, NM_001346530.1:c.*1699_*1700del, NM_001346530.1:c.*1700del, NM_001346530.1:c.*1700dup, NM_001346530.1:c.*1699_*1700dup, NM_001346530.1:c.*1698_*1700dup, NM_001346530.1:c.*1697_*1700dup, NR_144463.2:n.2602_2603del, NR_144463.2:n.2603del, NR_144463.2:n.2603dup, NR_144463.2:n.2602_2603dup, NR_144463.2:n.2601_2603dup, NR_144463.2:n.2600_2603dup, NR_144463.1:n.2856_2857del, NR_144463.1:n.2857del, NR_144463.1:n.2857dup, NR_144463.1:n.2856_2857dup, NR_144463.1:n.2855_2857dup, NR_144463.1:n.2854_2857dup, NM_001346532.1:c.*1699_*1700del, NM_001346532.1:c.*1700del, NM_001346532.1:c.*1700dup, NM_001346532.1:c.*1699_*1700dup, NM_001346532.1:c.*1698_*1700dup, NM_001346532.1:c.*1697_*1700dup, NM_001346533.1:c.*1699_*1700del, NM_001346533.1:c.*1700del, NM_001346533.1:c.*1700dup, NM_001346533.1:c.*1699_*1700dup, NM_001346533.1:c.*1698_*1700dup, NM_001346533.1:c.*1697_*1700dup, NR_144464.1:n.2821_2822del, NR_144464.1:n.2822del, NR_144464.1:n.2822dup, NR_144464.1:n.2821_2822dup, NR_144464.1:n.2820_2822dup, NR_144464.1:n.2819_2822dup, XM_006715582.3:c.*1699_*1700del, XM_006715582.3:c.*1700del, XM_006715582.3:c.*1700dup, XM_006715582.3:c.*1699_*1700dup, XM_006715582.3:c.*1698_*1700dup, XM_006715582.3:c.*1697_*1700dup, XM_006715582.2:c.*1699_*1700del, XM_006715582.2:c.*1700del, XM_006715582.2:c.*1700dup, XM_006715582.2:c.*1699_*1700dup, XM_006715582.2:c.*1698_*1700dup, XM_006715582.2:c.*1697_*1700dup

Select item 14908276602.

rs1490827660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99280136 (GRCh38)
6:99728012 (GRCh37)
Canonical SPDI:: NC_000006.12:99280135:G:A
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99280136G>A, NC_000006.11:g.99728012G>A, NG_051943.1:g.75175C>T, NM_032511.4:c.*1028C>T, NM_032511.3:c.*1028C>T, NM_032511.2:c.*1028C>T, NM_001346531.2:c.*1028C>T, NM_001346531.1:c.*1028C>T, NM_001346530.2:c.*1028C>T, NM_001346530.1:c.*1028C>T, NR_144463.2:n.1931C>T, NR_144463.1:n.2185C>T, NM_001346532.1:c.*1028C>T, NM_001346533.1:c.*1028C>T, NR_144464.1:n.2150C>T, XM_006715582.3:c.*1028C>T, XM_006715582.2:c.*1028C>T

Select item 14907004043.

rs1490700404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:99271546 (GRCh38)
6:99719422 (GRCh37)
Canonical SPDI:: NC_000006.12:99271545:A:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99271546A>T, NC_000006.11:g.99719422A>T, NG_051943.1:g.83765T>A, NM_032511.4:c.*9618T>A, NM_032511.3:c.*9618T>A, NM_001346531.2:c.*9618T>A, NM_001346531.1:c.*9618T>A, NM_001346530.2:c.*9618T>A, NM_001346530.1:c.*9618T>A, NR_144463.2:n.10521T>A, NR_144463.1:n.10775T>A, NM_001346532.1:c.*9618T>A, NM_001346533.1:c.*9618T>A, NR_144464.1:n.10740T>A, XM_006715582.3:c.*9618T>A

Select item 14904876274.

rs1490487627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99279471 (GRCh38)
6:99727347 (GRCh37)
Canonical SPDI:: NC_000006.12:99279470:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99279471T>C, NC_000006.11:g.99727347T>C, NG_051943.1:g.75840A>G, NM_032511.4:c.*1693A>G, NM_032511.3:c.*1693A>G, NM_032511.2:c.*1693A>G, NM_001346531.2:c.*1693A>G, NM_001346531.1:c.*1693A>G, NM_001346530.2:c.*1693A>G, NM_001346530.1:c.*1693A>G, NR_144463.2:n.2596A>G, NR_144463.1:n.2850A>G, NM_001346532.1:c.*1693A>G, NM_001346533.1:c.*1693A>G, NR_144464.1:n.2815A>G, XM_006715582.3:c.*1693A>G, XM_006715582.2:c.*1693A>G

Select item 14902029205.

rs1490202920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99272891 (GRCh38)
6:99720767 (GRCh37)
Canonical SPDI:: NC_000006.12:99272890:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.99272891T>C, NC_000006.11:g.99720767T>C, NG_051943.1:g.82420A>G, NM_032511.4:c.*8273A>G, NM_032511.3:c.*8273A>G, NM_001346531.2:c.*8273A>G, NM_001346531.1:c.*8273A>G, NM_001346530.2:c.*8273A>G, NM_001346530.1:c.*8273A>G, NR_144463.2:n.9176A>G, NR_144463.1:n.9430A>G, NM_001346532.1:c.*8273A>G, NM_001346533.1:c.*8273A>G, NR_144464.1:n.9395A>G, XM_006715582.3:c.*8273A>G

Select item 14896389316.

rs1489638931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:99272307 (GRCh38)
6:99720183 (GRCh37)
Canonical SPDI:: NC_000006.12:99272306:C:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.99272307C>G, NC_000006.11:g.99720183C>G, NG_051943.1:g.83004G>C, NM_032511.4:c.*8857G>C, NM_032511.3:c.*8857G>C, NM_001346531.2:c.*8857G>C, NM_001346531.1:c.*8857G>C, NM_001346530.2:c.*8857G>C, NM_001346530.1:c.*8857G>C, NR_144463.2:n.9760G>C, NR_144463.1:n.10014G>C, NM_001346532.1:c.*8857G>C, NM_001346533.1:c.*8857G>C, NR_144464.1:n.9979G>C, XM_006715582.3:c.*8857G>C

Select item 14895766947.

rs1489576694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99276568 (GRCh38)
6:99724444 (GRCh37)
Canonical SPDI:: NC_000006.12:99276567:A:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99276568A>G, NC_000006.11:g.99724444A>G, NG_051943.1:g.78743T>C, NM_032511.4:c.*4596T>C, NM_032511.3:c.*4596T>C, NM_032511.2:c.*4596T>C, NM_001346531.2:c.*4596T>C, NM_001346531.1:c.*4596T>C, NM_001346530.2:c.*4596T>C, NM_001346530.1:c.*4596T>C, NR_144463.2:n.5499T>C, NR_144463.1:n.5753T>C, NM_001346532.1:c.*4596T>C, NM_001346533.1:c.*4596T>C, NR_144464.1:n.5718T>C, XM_006715582.3:c.*4596T>C, XM_006715582.2:c.*4596T>C

Select item 14895503188.

rs1489550318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99281032 (GRCh38)
6:99728908 (GRCh37)
Canonical SPDI:: NC_000006.12:99281031:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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_000006.12:g.99281032T>C, NC_000006.11:g.99728908T>C, NG_051943.1:g.74279A>G, NM_032511.4:c.*132A>G, NM_032511.3:c.*132A>G, NM_032511.2:c.*132A>G, NM_001346531.2:c.*132A>G, NM_001346531.1:c.*132A>G, NM_001346530.2:c.*132A>G, NM_001346530.1:c.*132A>G, NR_144463.2:n.1035A>G, NR_144463.1:n.1289A>G, NM_001346532.1:c.*132A>G, NM_001346533.1:c.*132A>G, NR_144464.1:n.1254A>G, XM_006715582.3:c.*132A>G, XM_006715582.2:c.*132A>G, XM_006715582.1:c.*132A>G

Select item 14891692799.

rs1489169279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99272423 (GRCh38)
6:99720299 (GRCh37)
Canonical SPDI:: NC_000006.12:99272422:C:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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_000006.12:g.99272423C>T, NC_000006.11:g.99720299C>T, NG_051943.1:g.82888G>A, NM_032511.4:c.*8741G>A, NM_032511.3:c.*8741G>A, NM_001346531.2:c.*8741G>A, NM_001346531.1:c.*8741G>A, NM_001346530.2:c.*8741G>A, NM_001346530.1:c.*8741G>A, NR_144463.2:n.9644G>A, NR_144463.1:n.9898G>A, NM_001346532.1:c.*8741G>A, NM_001346533.1:c.*8741G>A, NR_144464.1:n.9863G>A, XM_006715582.3:c.*8741G>A

Select item 148799976610.

rs1487999766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:99275334 (GRCh38)
6:99723210 (GRCh37)
Canonical SPDI:: NC_000006.12:99275333:A:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.99275334A>C, NC_000006.11:g.99723210A>C, NG_051943.1:g.79977T>G, NM_032511.4:c.*5830T>G, NM_032511.3:c.*5830T>G, NM_032511.2:c.*5830T>G, NM_001346531.2:c.*5830T>G, NM_001346531.1:c.*5830T>G, NM_001346530.2:c.*5830T>G, NM_001346530.1:c.*5830T>G, NR_144463.2:n.6733T>G, NR_144463.1:n.6987T>G, NM_001346532.1:c.*5830T>G, NM_001346533.1:c.*5830T>G, NR_144464.1:n.6952T>G, XM_006715582.3:c.*5830T>G, XM_006715582.2:c.*5830T>G

Select item 148792526511.

rs1487925265 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:99271228 (GRCh38)
6:99719104 (GRCh37)
Canonical SPDI:: NC_000006.12:99271227:CCC:CC
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.99271230del, NC_000006.11:g.99719106del, NG_051943.1:g.84083del, NM_032511.4:c.*9936del, NM_032511.3:c.*9936del, NM_001346531.2:c.*9936del, NM_001346531.1:c.*9936del, NM_001346530.2:c.*9936del, NM_001346530.1:c.*9936del, NR_144463.2:n.10839del, NR_144463.1:n.11093del, NM_001346532.1:c.*9936del, NM_001346533.1:c.*9936del, NR_144464.1:n.11058del, XM_006715582.3:c.*9936del

Select item 148785750212.

rs1487857502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:99273709 (GRCh38)
6:99721585 (GRCh37)
Canonical SPDI:: NC_000006.12:99273708:T:A,NC_000006.12:99273708:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99273709T>A, NC_000006.12:g.99273709T>C, NC_000006.11:g.99721585T>A, NC_000006.11:g.99721585T>C, NG_051943.1:g.81602A>T, NG_051943.1:g.81602A>G, NM_032511.4:c.*7455A>T, NM_032511.4:c.*7455A>G, NM_032511.3:c.*7455A>T, NM_032511.3:c.*7455A>G, NM_032511.2:c.*7455A>T, NM_032511.2:c.*7455A>G, NM_001346531.2:c.*7455A>T, NM_001346531.2:c.*7455A>G, NM_001346531.1:c.*7455A>T, NM_001346531.1:c.*7455A>G, NM_001346530.2:c.*7455A>T, NM_001346530.2:c.*7455A>G, NM_001346530.1:c.*7455A>T, NM_001346530.1:c.*7455A>G, NR_144463.2:n.8358A>T, NR_144463.2:n.8358A>G, NR_144463.1:n.8612A>T, NR_144463.1:n.8612A>G, NM_001346532.1:c.*7455A>T, NM_001346532.1:c.*7455A>G, NM_001346533.1:c.*7455A>T, NM_001346533.1:c.*7455A>G, NR_144464.1:n.8577A>T, NR_144464.1:n.8577A>G, XM_006715582.3:c.*7455A>T, XM_006715582.3:c.*7455A>G, XM_006715582.2:c.*7455A>T, XM_006715582.2:c.*7455A>G

Select item 148778361913.

rs1487783619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99279947 (GRCh38)
6:99727823 (GRCh37)
Canonical SPDI:: NC_000006.12:99279946:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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_000006.12:g.99279947T>C, NC_000006.11:g.99727823T>C, NG_051943.1:g.75364A>G, NM_032511.4:c.*1217A>G, NM_032511.3:c.*1217A>G, NM_032511.2:c.*1217A>G, NM_001346531.2:c.*1217A>G, NM_001346531.1:c.*1217A>G, NM_001346530.2:c.*1217A>G, NM_001346530.1:c.*1217A>G, NR_144463.2:n.2120A>G, NR_144463.1:n.2374A>G, NM_001346532.1:c.*1217A>G, NM_001346533.1:c.*1217A>G, NR_144464.1:n.2339A>G, XM_006715582.3:c.*1217A>G, XM_006715582.2:c.*1217A>G

Select item 148776302114.

rs1487763021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:99279478 (GRCh38)
6:99727354 (GRCh37)
Canonical SPDI:: NC_000006.12:99279477:A:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000139/19 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.000212/56 (TOPMED)
HGVS:: NC_000006.12:g.99279478A>T, NC_000006.11:g.99727354A>T, NG_051943.1:g.75833T>A, NM_032511.4:c.*1686T>A, NM_032511.3:c.*1686T>A, NM_032511.2:c.*1686T>A, NM_001346531.2:c.*1686T>A, NM_001346531.1:c.*1686T>A, NM_001346530.2:c.*1686T>A, NM_001346530.1:c.*1686T>A, NR_144463.2:n.2589T>A, NR_144463.1:n.2843T>A, NM_001346532.1:c.*1686T>A, NM_001346533.1:c.*1686T>A, NR_144464.1:n.2808T>A, XM_006715582.3:c.*1686T>A, XM_006715582.2:c.*1686T>A

Select item 148663861015.

rs1486638610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99275052 (GRCh38)
6:99722928 (GRCh37)
Canonical SPDI:: NC_000006.12:99275051:G:A
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99275052G>A, NC_000006.11:g.99722928G>A, NG_051943.1:g.80259C>T, NM_032511.4:c.*6112C>T, NM_032511.3:c.*6112C>T, NM_032511.2:c.*6112C>T, NM_001346531.2:c.*6112C>T, NM_001346531.1:c.*6112C>T, NM_001346530.2:c.*6112C>T, NM_001346530.1:c.*6112C>T, NR_144463.2:n.7015C>T, NR_144463.1:n.7269C>T, NM_001346532.1:c.*6112C>T, NM_001346533.1:c.*6112C>T, NR_144464.1:n.7234C>T, XM_006715582.3:c.*6112C>T, XM_006715582.2:c.*6112C>T

Select item 148659832116.

rs1486598321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:99323455 (GRCh38)
6:99771331 (GRCh37)
Canonical SPDI:: NC_000006.12:99323454:G:C
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.99323455G>C, NC_000006.11:g.99771331G>C, NG_051943.1:g.31856C>G, NM_032511.4:c.812C>G, NM_032511.3:c.812C>G, NM_032511.2:c.812C>G, NM_001346531.2:c.653C>G, NM_001346531.1:c.653C>G, NM_001346530.2:c.449C>G, NM_001346530.1:c.449C>G, NM_001346532.1:c.653C>G, NM_001346533.1:c.449C>G, XM_006715582.3:c.164C>G, XM_006715582.2:c.164C>G, XM_006715582.1:c.164C>G, NP_115900.1:p.Ala271Gly, NP_001333460.1:p.Ala218Gly, NP_001333459.1:p.Ala150Gly, NP_001333461.1:p.Ala218Gly, NP_001333462.1:p.Ala150Gly, XP_006715645.1:p.Ala55Gly

Select item 148654840217.

rs1486548402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:99276193 (GRCh38)
6:99724069 (GRCh37)
Canonical SPDI:: NC_000006.12:99276192:T:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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.99276193T>G, NC_000006.11:g.99724069T>G, NG_051943.1:g.79118A>C, NM_032511.4:c.*4971A>C, NM_032511.3:c.*4971A>C, NM_032511.2:c.*4971A>C, NM_001346531.2:c.*4971A>C, NM_001346531.1:c.*4971A>C, NM_001346530.2:c.*4971A>C, NM_001346530.1:c.*4971A>C, NR_144463.2:n.5874A>C, NR_144463.1:n.6128A>C, NM_001346532.1:c.*4971A>C, NM_001346533.1:c.*4971A>C, NR_144464.1:n.6093A>C, XM_006715582.3:c.*4971A>C, XM_006715582.2:c.*4971A>C

Select item 148651336418.

rs1486513364 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:99276546 (GRCh38)
6:99724422 (GRCh37)
Canonical SPDI:: NC_000006.12:99276544:TCT:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99276546_99276547del, NC_000006.11:g.99724422_99724423del, NG_051943.1:g.78765_78766del, NM_032511.4:c.*4618_*4619del, NM_032511.3:c.*4618_*4619del, NM_032511.2:c.*4618_*4619del, NM_001346531.2:c.*4618_*4619del, NM_001346531.1:c.*4618_*4619del, NM_001346530.2:c.*4618_*4619del, NM_001346530.1:c.*4618_*4619del, NR_144463.2:n.5521_5522del, NR_144463.1:n.5775_5776del, NM_001346532.1:c.*4618_*4619del, NM_001346533.1:c.*4618_*4619del, NR_144464.1:n.5740_5741del, XM_006715582.3:c.*4618_*4619del, XM_006715582.2:c.*4618_*4619del

Select item 148651148819.

rs1486511488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99291734 (GRCh38)
6:99739610 (GRCh37)
Canonical SPDI:: NC_000006.12:99291733:G:A
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99291734G>A, NC_000006.11:g.99739610G>A, NG_051943.1:g.63577C>T, NM_032511.4:c.910C>T, NM_032511.3:c.910C>T, NM_032511.2:c.910C>T, NM_001346531.2:c.751C>T, NM_001346531.1:c.751C>T, NM_001346530.2:c.547C>T, NM_001346530.1:c.547C>T, NR_144463.2:n.583C>T, NR_144463.1:n.837C>T, NM_001346532.1:c.751C>T, NM_001346533.1:c.547C>T, NR_144464.1:n.802C>T, XM_006715582.3:c.262C>T, XM_006715582.2:c.262C>T, XM_006715582.1:c.262C>T, NP_115900.1:p.Pro304Ser, NP_001333460.1:p.Pro251Ser, NP_001333459.1:p.Pro183Ser, NP_001333461.1:p.Pro251Ser, NP_001333462.1:p.Pro183Ser, XP_006715645.1:p.Pro88Ser

Select item 148636972920.

rs1486369729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99349835 (GRCh38)
6:99797711 (GRCh37)
Canonical SPDI:: NC_000006.12:99349834:C:T
Gene:: FAXC (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.99349835C>T, NC_000006.11:g.99797711C>T, NG_051943.1:g.5476G>A, NM_001346532.1:c.-120G>A, NM_001346533.1:c.-202G>A, NR_144464.1:n.156G>A

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