SNP Links for Gene (Select 84553) - SNP

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Select item 14915669211.

rs1491566921 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:99288247 (GRCh38)
6:99736123 (GRCh37)
Canonical SPDI:: NC_000006.12:99288246:AG:
Gene:: FAXC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.99288247_99288248del, NC_000006.11:g.99736123_99736124del, NG_051943.1:g.67063_67064del

Select item 14915218082.

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 14914854573.

rs1491485457 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:99293666 (GRCh38)
6:99741543 (GRCh37)
Canonical SPDI:: NC_000006.12:99293666:T:TAT
Gene:: FAXC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000006.12:g.99293667_99293668insAT, NC_000006.11:g.99741543_99741544insAT, NG_051943.1:g.61644_61645insTA

Select item 14912266704.

rs1491226670 has merged into rs71021722 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 6:99316165 (GRCh38)
6:99764041 (GRCh37)
Canonical SPDI:: NC_000006.12:99316157:CCCCCCCCC:CCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000006.12:99316157:CCCCCCCCC:CCCCCCCCCCCCCCCCCCC
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.2798/1401 (1000Genomes)
-=0.4493/1666 (TWINSUK)
-=0.4502/1735 (ALSPAC)
-=0.4762/2025 (Estonian)
HGVS:: NC_000006.12:g.99316165_99316166del, NC_000006.12:g.99316166del, NC_000006.12:g.99316166dup, NC_000006.12:g.99316165_99316166dup, NC_000006.12:g.99316164_99316166dup, NC_000006.12:g.99316163_99316166dup, NC_000006.12:g.99316162_99316166dup, NC_000006.12:g.99316161_99316166dup, NC_000006.12:g.99316160_99316166dup, NC_000006.12:g.99316159_99316166dup, NC_000006.12:g.99316158_99316166dup, NC_000006.12:g.99316166_99316167insCCCCCCCCCC, NC_000006.11:g.99764041_99764042del, NC_000006.11:g.99764042del, NC_000006.11:g.99764042dup, NC_000006.11:g.99764041_99764042dup, NC_000006.11:g.99764040_99764042dup, NC_000006.11:g.99764039_99764042dup, NC_000006.11:g.99764038_99764042dup, NC_000006.11:g.99764037_99764042dup, NC_000006.11:g.99764036_99764042dup, NC_000006.11:g.99764035_99764042dup, NC_000006.11:g.99764034_99764042dup, NC_000006.11:g.99764042_99764043insCCCCCCCCCC, NG_051943.1:g.39152_39153del, NG_051943.1:g.39153del, NG_051943.1:g.39153dup, NG_051943.1:g.39152_39153dup, NG_051943.1:g.39151_39153dup, NG_051943.1:g.39150_39153dup, NG_051943.1:g.39149_39153dup, NG_051943.1:g.39148_39153dup, NG_051943.1:g.39147_39153dup, NG_051943.1:g.39146_39153dup, NG_051943.1:g.39145_39153dup, NG_051943.1:g.39153_39154insGGGGGGGGGG

Select item 14911880075.

rs1491188007 has merged into rs71785814 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:99293714 (GRCh38)
6:99741590 (GRCh37)
Canonical SPDI:: NC_000006.12:99293712:TCT:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00067/11 (TOMMO)
-=0.00076/69 (GnomAD)
HGVS:: NC_000006.12:g.99293714_99293715del, NC_000006.11:g.99741590_99741591del, NG_051943.1:g.61597_61598del

Select item 14911014276.

rs1491101427 has merged into rs55827992 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:99293688 (GRCh38)
6:99741564 (GRCh37)
Canonical SPDI:: NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:99293665:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTGTGT=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.99293666GT[11], NC_000006.12:g.99293666GT[12], NC_000006.12:g.99293666GT[13], NC_000006.12:g.99293666GT[14], NC_000006.12:g.99293666GT[15], NC_000006.12:g.99293666GT[16], NC_000006.12:g.99293666GT[17], NC_000006.12:g.99293666GT[18], NC_000006.12:g.99293666GT[19], NC_000006.12:g.99293666GT[20], NC_000006.12:g.99293666GT[21], NC_000006.12:g.99293666GT[22], NC_000006.12:g.99293666GT[23], NC_000006.12:g.99293666GT[25], NC_000006.12:g.99293666GT[26], NC_000006.12:g.99293666GT[27], NC_000006.12:g.99293666GT[28], NC_000006.12:g.99293666GT[29], NC_000006.12:g.99293666GT[30], NC_000006.12:g.99293666GT[31], NC_000006.12:g.99293666GT[32], NC_000006.12:g.99293666GT[33], NC_000006.12:g.99293666GT[36], NC_000006.12:g.99293666GT[37], NC_000006.12:g.99293666GT[41], NC_000006.11:g.99741542GT[11], NC_000006.11:g.99741542GT[12], NC_000006.11:g.99741542GT[13], NC_000006.11:g.99741542GT[14], NC_000006.11:g.99741542GT[15], NC_000006.11:g.99741542GT[16], NC_000006.11:g.99741542GT[17], NC_000006.11:g.99741542GT[18], NC_000006.11:g.99741542GT[19], NC_000006.11:g.99741542GT[20], NC_000006.11:g.99741542GT[21], NC_000006.11:g.99741542GT[22], NC_000006.11:g.99741542GT[23], NC_000006.11:g.99741542GT[25], NC_000006.11:g.99741542GT[26], NC_000006.11:g.99741542GT[27], NC_000006.11:g.99741542GT[28], NC_000006.11:g.99741542GT[29], NC_000006.11:g.99741542GT[30], NC_000006.11:g.99741542GT[31], NC_000006.11:g.99741542GT[32], NC_000006.11:g.99741542GT[33], NC_000006.11:g.99741542GT[36], NC_000006.11:g.99741542GT[37], NC_000006.11:g.99741542GT[41], NG_051943.1:g.61598AC[11], NG_051943.1:g.61598AC[12], NG_051943.1:g.61598AC[13], NG_051943.1:g.61598AC[14], NG_051943.1:g.61598AC[15], NG_051943.1:g.61598AC[16], NG_051943.1:g.61598AC[17], NG_051943.1:g.61598AC[18], NG_051943.1:g.61598AC[19], NG_051943.1:g.61598AC[20], NG_051943.1:g.61598AC[21], NG_051943.1:g.61598AC[22], NG_051943.1:g.61598AC[23], NG_051943.1:g.61598AC[25], NG_051943.1:g.61598AC[26], NG_051943.1:g.61598AC[27], NG_051943.1:g.61598AC[28], NG_051943.1:g.61598AC[29], NG_051943.1:g.61598AC[30], NG_051943.1:g.61598AC[31], NG_051943.1:g.61598AC[32], NG_051943.1:g.61598AC[33], NG_051943.1:g.61598AC[36], NG_051943.1:g.61598AC[37], NG_051943.1:g.61598AC[41]

Select item 14909839467.

rs1490983946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99339363 (GRCh38)
6:99787239 (GRCh37)
Canonical SPDI:: NC_000006.12:99339362:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.99339363T>C, NC_000006.11:g.99787239T>C, NG_051943.1:g.15948A>G

Select item 14909578268.

rs1490957826 has merged into rs57370118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:99319403 (GRCh38)
6:99767279 (GRCh37)
Canonical SPDI:: NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:99319398:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99319403_99319422del, NC_000006.12:g.99319408_99319422del, NC_000006.12:g.99319409_99319422del, NC_000006.12:g.99319410_99319422del, NC_000006.12:g.99319411_99319422del, NC_000006.12:g.99319412_99319422del, NC_000006.12:g.99319413_99319422del, NC_000006.12:g.99319415_99319422del, NC_000006.12:g.99319416_99319422del, NC_000006.12:g.99319417_99319422del, NC_000006.12:g.99319418_99319422del, NC_000006.12:g.99319419_99319422del, NC_000006.12:g.99319420_99319422del, NC_000006.12:g.99319421_99319422del, NC_000006.12:g.99319422del, NC_000006.12:g.99319422dup, NC_000006.12:g.99319421_99319422dup, NC_000006.12:g.99319420_99319422dup, NC_000006.12:g.99319419_99319422dup, NC_000006.12:g.99319418_99319422dup, NC_000006.12:g.99319417_99319422dup, NC_000006.12:g.99319415_99319422dup, NC_000006.11:g.99767279_99767298del, NC_000006.11:g.99767284_99767298del, NC_000006.11:g.99767285_99767298del, NC_000006.11:g.99767286_99767298del, NC_000006.11:g.99767287_99767298del, NC_000006.11:g.99767288_99767298del, NC_000006.11:g.99767289_99767298del, NC_000006.11:g.99767291_99767298del, NC_000006.11:g.99767292_99767298del, NC_000006.11:g.99767293_99767298del, NC_000006.11:g.99767294_99767298del, NC_000006.11:g.99767295_99767298del, NC_000006.11:g.99767296_99767298del, NC_000006.11:g.99767297_99767298del, NC_000006.11:g.99767298del, NC_000006.11:g.99767298dup, NC_000006.11:g.99767297_99767298dup, NC_000006.11:g.99767296_99767298dup, NC_000006.11:g.99767295_99767298dup, NC_000006.11:g.99767294_99767298dup, NC_000006.11:g.99767293_99767298dup, NC_000006.11:g.99767291_99767298dup, NG_051943.1:g.35893_35912del, NG_051943.1:g.35898_35912del, NG_051943.1:g.35899_35912del, NG_051943.1:g.35900_35912del, NG_051943.1:g.35901_35912del, NG_051943.1:g.35902_35912del, NG_051943.1:g.35903_35912del, NG_051943.1:g.35905_35912del, NG_051943.1:g.35906_35912del, NG_051943.1:g.35907_35912del, NG_051943.1:g.35908_35912del, NG_051943.1:g.35909_35912del, NG_051943.1:g.35910_35912del, NG_051943.1:g.35911_35912del, NG_051943.1:g.35912del, NG_051943.1:g.35912dup, NG_051943.1:g.35911_35912dup, NG_051943.1:g.35910_35912dup, NG_051943.1:g.35909_35912dup, NG_051943.1:g.35908_35912dup, NG_051943.1:g.35907_35912dup, NG_051943.1:g.35905_35912dup

Select item 14908918519.

rs1490891851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99341419 (GRCh38)
6:99789295 (GRCh37)
Canonical SPDI:: NC_000006.12:99341418:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.99341419T>C, NC_000006.11:g.99789295T>C, NG_051943.1:g.13892A>G

Select item 149082766010.

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 149082666011.

rs1490826660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:99346907 (GRCh38)
6:99794783 (GRCh37)
Canonical SPDI:: NC_000006.12:99346906:T:C,NC_000006.12:99346906:T:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99346907T>C, NC_000006.12:g.99346907T>G, NC_000006.11:g.99794783T>C, NC_000006.11:g.99794783T>G, NG_051943.1:g.8404A>G, NG_051943.1:g.8404A>C

Select item 149081825712.

rs1490818257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:99313500 (GRCh38)
6:99761376 (GRCh37)
Canonical SPDI:: NC_000006.12:99313499:A:C
Gene:: FAXC (Varview)
Functional Consequence:: 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.99313500A>C, NC_000006.11:g.99761376A>C, NG_051943.1:g.41811T>G

Select item 149079067913.

rs1490790679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99346078 (GRCh38)
6:99793954 (GRCh37)
Canonical SPDI:: NC_000006.12:99346077:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000006.12:g.99346078T>C, NC_000006.11:g.99793954T>C, NG_051943.1:g.9233A>G

Select item 149077839214.

rs1490778392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99329039 (GRCh38)
6:99776915 (GRCh37)
Canonical SPDI:: NC_000006.12:99329038:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.99329039T>C, NC_000006.11:g.99776915T>C, NG_051943.1:g.26272A>G

Select item 149071928515.

rs1490719285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:99327947 (GRCh38)
6:99775823 (GRCh37)
Canonical SPDI:: NC_000006.12:99327946:C:A
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.99327947C>A, NC_000006.11:g.99775823C>A, NG_051943.1:g.27364G>T

Select item 149070040416.

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 149063972217.

rs1490639722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99304003 (GRCh38)
6:99751879 (GRCh37)
Canonical SPDI:: NC_000006.12:99304002:C:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.99304003C>T, NC_000006.11:g.99751879C>T, NG_051943.1:g.51308G>A

Select item 149058800618.

rs1490588006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:99305171 (GRCh38)
6:99753047 (GRCh37)
Canonical SPDI:: NC_000006.12:99305170:T:A,NC_000006.12:99305170:T:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99305171T>A, NC_000006.12:g.99305171T>G, NC_000006.11:g.99753047T>A, NC_000006.11:g.99753047T>G, NG_051943.1:g.50140A>T, NG_051943.1:g.50140A>C

Select item 149053827719.

rs1490538277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99300664 (GRCh38)
6:99748540 (GRCh37)
Canonical SPDI:: NC_000006.12:99300663:A:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99300664A>G, NC_000006.11:g.99748540A>G, NG_051943.1:g.54647T>C

Select item 149049484220.

rs1490494842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99340446 (GRCh38)
6:99788322 (GRCh37)
Canonical SPDI:: NC_000006.12:99340445:A:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99340446A>G, NC_000006.11:g.99788322A>G, NG_051943.1:g.14865T>C

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