SNP Links for Gene (Select 355) - SNP

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Select item 14915428271.

rs1491542827 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14913698932.

rs1491369893 has merged into rs71022549 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:88983622 (GRCh38)
10:90743379 (GRCh37)
Canonical SPDI:: NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88983609:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.88983622_88983639del, NC_000010.11:g.88983623_88983639del, NC_000010.11:g.88983624_88983639del, NC_000010.11:g.88983625_88983639del, NC_000010.11:g.88983626_88983639del, NC_000010.11:g.88983627_88983639del, NC_000010.11:g.88983628_88983639del, NC_000010.11:g.88983629_88983639del, NC_000010.11:g.88983630_88983639del, NC_000010.11:g.88983631_88983639del, NC_000010.11:g.88983632_88983639del, NC_000010.11:g.88983633_88983639del, NC_000010.11:g.88983634_88983639del, NC_000010.11:g.88983635_88983639del, NC_000010.11:g.88983636_88983639del, NC_000010.11:g.88983637_88983639del, NC_000010.11:g.88983638_88983639del, NC_000010.11:g.88983639del, NC_000010.11:g.88983639dup, NC_000010.11:g.88983638_88983639dup, NC_000010.11:g.88983637_88983639dup, NC_000010.11:g.88983636_88983639dup, NC_000010.11:g.88983635_88983639dup, NC_000010.11:g.88983634_88983639dup, NC_000010.11:g.88983633_88983639dup, NC_000010.11:g.88983620_88983639dup, NC_000010.10:g.90743379_90743396del, NC_000010.10:g.90743380_90743396del, NC_000010.10:g.90743381_90743396del, NC_000010.10:g.90743382_90743396del, NC_000010.10:g.90743383_90743396del, NC_000010.10:g.90743384_90743396del, NC_000010.10:g.90743385_90743396del, NC_000010.10:g.90743386_90743396del, NC_000010.10:g.90743387_90743396del, NC_000010.10:g.90743388_90743396del, NC_000010.10:g.90743389_90743396del, NC_000010.10:g.90743390_90743396del, NC_000010.10:g.90743391_90743396del, NC_000010.10:g.90743392_90743396del, NC_000010.10:g.90743393_90743396del, NC_000010.10:g.90743394_90743396del, NC_000010.10:g.90743395_90743396del, NC_000010.10:g.90743396del, NC_000010.10:g.90743396dup, NC_000010.10:g.90743395_90743396dup, NC_000010.10:g.90743394_90743396dup, NC_000010.10:g.90743393_90743396dup, NC_000010.10:g.90743392_90743396dup, NC_000010.10:g.90743391_90743396dup, NC_000010.10:g.90743390_90743396dup, NC_000010.10:g.90743377_90743396dup, NG_011541.1:g.12764_12781del, NG_011541.1:g.12765_12781del, NG_011541.1:g.12766_12781del, NG_011541.1:g.12767_12781del, NG_011541.1:g.12768_12781del, NG_011541.1:g.12769_12781del, NG_011541.1:g.12770_12781del, NG_011541.1:g.12771_12781del, NG_011541.1:g.12772_12781del, NG_011541.1:g.12773_12781del, NG_011541.1:g.12774_12781del, NG_011541.1:g.12775_12781del, NG_011541.1:g.12776_12781del, NG_011541.1:g.12777_12781del, NG_011541.1:g.12778_12781del, NG_011541.1:g.12779_12781del, NG_011541.1:g.12780_12781del, NG_011541.1:g.12781del, NG_011541.1:g.12781dup, NG_011541.1:g.12780_12781dup, NG_011541.1:g.12779_12781dup, NG_011541.1:g.12778_12781dup, NG_011541.1:g.12777_12781dup, NG_011541.1:g.12776_12781dup, NG_011541.1:g.12775_12781dup, NG_011541.1:g.12762_12781dup

Select item 14913253973.

rs1491325397 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:88969576 (GRCh38)
10:90729333 (GRCh37)
Canonical SPDI:: NC_000010.11:88969575:CT:
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88969576_88969577del, NC_000010.10:g.90729333_90729334del, NG_011541.1:g.26814_26815del, XM_006717819.4:c.-3772_-3771del, XM_006717819.3:c.-3772_-3771del

Select item 14911597094.

rs1491159709 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:88998346 (GRCh38)
10:90758104 (GRCh37)
Canonical SPDI:: NC_000010.11:88998346:C:CC
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000010.11:g.88998347dup, NC_000010.10:g.90758104dup, NG_009089.2:g.12817dup

Select item 14911566795.

rs1491156679 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:88983609 (GRCh38)
10:90743366 (GRCh37)
Canonical SPDI:: NC_000010.11:88983608:CA:
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.88983609_88983610del, NC_000010.10:g.90743366_90743367del, NG_011541.1:g.12781_12782del

Select item 14910422246.

rs1491042224 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:89001277 (GRCh38)
10:90761035 (GRCh37)
Canonical SPDI:: NC_000010.11:89001277::G
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003204/38 (ALFA)
G=0.000071/1 (TOMMO)
G=0.004477/582 (GnomAD)
HGVS:: NC_000010.11:g.89001277_89001278insG, NC_000010.10:g.90761034_90761035insG, NG_009089.2:g.15747_15748insG

Select item 14909677837.

rs1490967783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:88968340 (GRCh38)
10:90728097 (GRCh37)
Canonical SPDI:: NC_000010.11:88968339:G:A,NC_000010.11:88968339:G:T
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000010.11:g.88968340G>A, NC_000010.11:g.88968340G>T, NC_000010.10:g.90728097G>A, NC_000010.10:g.90728097G>T, NG_011541.1:g.28051C>T, NG_011541.1:g.28051C>A, XM_006717819.4:c.-5008G>A, XM_006717819.4:c.-5008G>T

Select item 14908049208.

rs1490804920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:89007467 (GRCh38)
10:90767224 (GRCh37)
Canonical SPDI:: NC_000010.11:89007466:A:T
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.89007467A>T, NC_000010.10:g.90767224A>T, NG_009089.2:g.21937A>T

Select item 14908019489.

rs1490801948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88992549 (GRCh38)
10:90752306 (GRCh37)
Canonical SPDI:: NC_000010.11:88992548:A:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88992549A>G, NC_000010.10:g.90752306A>G, NG_009089.2:g.7019A>G, NG_011541.1:g.3842T>C, NR_028371.1:n.427T>C

Select item 149075269710.

rs1490752697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:89009131 (GRCh38)
10:90768888 (GRCh37)
Canonical SPDI:: NC_000010.11:89009130:T:C
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89009131T>C, NC_000010.10:g.90768888T>C, NG_009089.2:g.23601T>C

Select item 149070125711.

rs1490701257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:89008065 (GRCh38)
10:90767822 (GRCh37)
Canonical SPDI:: NC_000010.11:89008064:T:C
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89008065T>C, NC_000010.10:g.90767822T>C, NG_009089.2:g.22535T>C

Select item 149066615512.

rs1490666155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:89003737 (GRCh38)
10:90763494 (GRCh37)
Canonical SPDI:: NC_000010.11:89003736:C:A,NC_000010.11:89003736:C:T
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.89003737C>A, NC_000010.11:g.89003737C>T, NC_000010.10:g.90763494C>A, NC_000010.10:g.90763494C>T, NG_009089.2:g.18207C>A, NG_009089.2:g.18207C>T

Select item 149016815813.

rs1490168158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88983935 (GRCh38)
10:90743692 (GRCh37)
Canonical SPDI:: NC_000010.11:88983934:G:A
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88983935G>A, NC_000010.10:g.90743692G>A, NG_011541.1:g.12456C>T

Select item 149008433014.

rs1490084330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88990764 (GRCh38)
10:90750521 (GRCh37)
Canonical SPDI:: NC_000010.11:88990763:C:T
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.88990764C>T, NC_000010.10:g.90750521C>T, NG_009089.2:g.5234C>T, NM_000043.4:c.-113C>T, NG_011541.1:g.5627G>A, NM_000043.5:c.-113C>T, NM_152872.3:c.-113C>T, NM_152871.3:c.-113C>T, NR_028036.3:n.206C>T, NR_028033.3:n.206C>T, NR_028035.3:n.206C>T, NR_028034.3:n.206C>T, NM_152872.2:c.-113C>T, NM_152871.2:c.-113C>T, NR_028036.2:n.234C>T, NR_028033.2:n.234C>T, NR_028035.2:n.234C>T, NR_028034.2:n.234C>T, NM_001320619.1:c.-113C>T, NR_135313.1:n.206C>T, NM_152873.1:c.-113C>T, NM_152875.1:c.-113C>T, NM_152874.1:c.-113C>T, NM_152877.1:c.-113C>T, NM_152876.1:c.-113C>T

Select item 148998537015.

rs1489985370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88993107 (GRCh38)
10:90752864 (GRCh37)
Canonical SPDI:: NC_000010.11:88993106:A:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000010.11:g.88993107A>G, NC_000010.10:g.90752864A>G, NG_009089.2:g.7577A>G, NG_011541.1:g.3284T>C

Select item 148997086816.

rs1489970868 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:88991923 (GRCh38)
10:90751680 (GRCh37)
Canonical SPDI:: NC_000010.11:88991922:TTTT:TTT
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.88991926del, NC_000010.10:g.90751683del, NG_009089.2:g.6396del, NG_011541.1:g.4468del, NR_028371.1:n.1053del

Select item 148993675717.

rs1489936757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88990620 (GRCh38)
10:90750377 (GRCh37)
Canonical SPDI:: NC_000010.11:88990619:C:A
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88990620C>A, NC_000010.10:g.90750377C>A, NG_009089.2:g.5090C>A, NM_000043.4:c.-257C>A, NG_011541.1:g.5771G>T, NM_000043.5:c.-257C>A, NM_152872.3:c.-257C>A, NM_152871.3:c.-257C>A, NR_028036.3:n.62C>A, NR_028033.3:n.62C>A, NR_028035.3:n.62C>A, NR_028034.3:n.62C>A, NM_152872.2:c.-257C>A, NM_152871.2:c.-257C>A, NR_028036.2:n.90C>A, NR_028033.2:n.90C>A, NR_028035.2:n.90C>A, NR_028034.2:n.90C>A, NM_001320619.1:c.-257C>A, NR_135313.1:n.62C>A, NM_152873.1:c.-257C>A, NM_152875.1:c.-257C>A, NM_152874.1:c.-257C>A, NM_152877.1:c.-257C>A, NM_152876.1:c.-257C>A

Select item 148988637118.

rs1489886371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:89015212 (GRCh38)
10:90774969 (GRCh37)
Canonical SPDI:: NC_000010.11:89015211:G:T
Gene:: FAS (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.89015212G>T, NC_000010.10:g.90774969G>T, NG_009089.2:g.29682G>T, NM_000043.6:c.*762G>T, NM_000043.5:c.*762G>T, NM_000043.4:c.*762G>T, NM_152872.4:c.*1082G>T, NM_152872.3:c.*1082G>T, NM_152872.2:c.*1082G>T, NM_152871.4:c.*762G>T, NM_152871.3:c.*762G>T, NM_152871.2:c.*762G>T, NR_028036.4:n.1740G>T, NR_028036.3:n.1979G>T, NR_028036.2:n.2007G>T, NR_028033.4:n.1677G>T, NR_028033.3:n.1916G>T, NR_028033.2:n.1944G>T, NR_028035.4:n.1602G>T, NR_028035.3:n.1841G>T, NR_028035.2:n.1869G>T, NR_028034.4:n.1539G>T, NR_028034.3:n.1778G>T, NR_028034.2:n.1806G>T, NR_135314.2:n.1936G>T, NR_135314.1:n.2079G>T, NM_001320619.2:c.*1093G>T, NM_001320619.1:c.*1093G>T, NR_135315.2:n.1689G>T, NR_135315.1:n.1832G>T, NR_135313.2:n.1657G>T, NR_135313.1:n.1896G>T, NM_001410956.1:c.*762G>T, XM_006717819.4:c.*762G>T, XM_006717819.3:c.*762G>T, XM_006717819.2:c.*762G>T, XM_006717819.1:c.*762G>T, XM_011539767.4:c.*762G>T, XM_011539764.3:c.*762G>T, XM_011539764.2:c.*762G>T, XM_011539764.1:c.*762G>T, XM_011539766.3:c.*762G>T, XM_011539766.2:c.*762G>T, XM_011539766.1:c.*762G>T, XM_011539765.3:c.*762G>T, XM_011539765.2:c.*762G>T, XM_011539765.1:c.*762G>T, XM_047425178.1:c.*762G>T, NM_152873.1:c.*1211G>T, NM_152875.1:c.*1199G>T, NM_152874.1:c.*1128G>T, NM_152877.1:c.*1211G>T, NM_152876.1:c.*1199G>T

Select item 148986424419.

rs1489864244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:89011985 (GRCh38)
10:90771742 (GRCh37)
Canonical SPDI:: NC_000010.11:89011984:C:A
Gene:: FAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89011985C>A, NC_000010.10:g.90771742C>A, NG_009089.2:g.26455C>A

Select item 148974148920.

rs1489741489 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:88989112 (GRCh38)
10:90748870 (GRCh37)
Canonical SPDI:: NC_000010.11:88989112:TTTTTTT:TTTTTTTT
Gene:: ACTA2 (Varview), FAS (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.88989119dup, NC_000010.10:g.90748876dup, NG_009089.2:g.3589dup, NG_011541.1:g.7278dup

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