SNP Links for Gene (Select 4597) - SNP

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Select item 14915862041.

rs1491586204 has merged into rs137932821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:88664588 (GRCh38)
16:88730996 (GRCh37)
Canonical SPDI:: NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.88664588_88664603del, NC_000016.10:g.88664590_88664603del, NC_000016.10:g.88664591_88664603del, NC_000016.10:g.88664592_88664603del, NC_000016.10:g.88664593_88664603del, NC_000016.10:g.88664594_88664603del, NC_000016.10:g.88664595_88664603del, NC_000016.10:g.88664596_88664603del, NC_000016.10:g.88664597_88664603del, NC_000016.10:g.88664598_88664603del, NC_000016.10:g.88664599_88664603del, NC_000016.10:g.88664600_88664603del, NC_000016.10:g.88664601_88664603del, NC_000016.10:g.88664602_88664603del, NC_000016.10:g.88664603del, NC_000016.10:g.88664603dup, NC_000016.10:g.88664602_88664603dup, NC_000016.10:g.88664597_88664603dup, NC_000016.10:g.88664596_88664603dup, NC_000016.10:g.88664594_88664603dup, NC_000016.10:g.88664593_88664603dup, NC_000016.10:g.88664592_88664603dup, NC_000016.10:g.88664591_88664603dup, NC_000016.10:g.88664589_88664603dup, NC_000016.9:g.88730996_88731011del, NC_000016.9:g.88730998_88731011del, NC_000016.9:g.88730999_88731011del, NC_000016.9:g.88731000_88731011del, NC_000016.9:g.88731001_88731011del, NC_000016.9:g.88731002_88731011del, NC_000016.9:g.88731003_88731011del, NC_000016.9:g.88731004_88731011del, NC_000016.9:g.88731005_88731011del, NC_000016.9:g.88731006_88731011del, NC_000016.9:g.88731007_88731011del, NC_000016.9:g.88731008_88731011del, NC_000016.9:g.88731009_88731011del, NC_000016.9:g.88731010_88731011del, NC_000016.9:g.88731011del, NC_000016.9:g.88731011dup, NC_000016.9:g.88731010_88731011dup, NC_000016.9:g.88731005_88731011dup, NC_000016.9:g.88731004_88731011dup, NC_000016.9:g.88731002_88731011dup, NC_000016.9:g.88731001_88731011dup, NC_000016.9:g.88731000_88731011dup, NC_000016.9:g.88730999_88731011dup, NC_000016.9:g.88730997_88731011dup, NG_052674.1:g.3561_3576del, NG_052674.1:g.3563_3576del, NG_052674.1:g.3564_3576del, NG_052674.1:g.3565_3576del, NG_052674.1:g.3566_3576del, NG_052674.1:g.3567_3576del, NG_052674.1:g.3568_3576del, NG_052674.1:g.3569_3576del, NG_052674.1:g.3570_3576del, NG_052674.1:g.3571_3576del, NG_052674.1:g.3572_3576del, NG_052674.1:g.3573_3576del, NG_052674.1:g.3574_3576del, NG_052674.1:g.3575_3576del, NG_052674.1:g.3576del, NG_052674.1:g.3576dup, NG_052674.1:g.3575_3576dup, NG_052674.1:g.3570_3576dup, NG_052674.1:g.3569_3576dup, NG_052674.1:g.3567_3576dup, NG_052674.1:g.3566_3576dup, NG_052674.1:g.3565_3576dup, NG_052674.1:g.3564_3576dup, NG_052674.1:g.3562_3576dup

Select item 14915637422.

rs1491563742 has merged into rs60124992 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:88661019 (GRCh38)
16:88727427 (GRCh37)
Canonical SPDI:: NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3383/1694 (1000Genomes)
HGVS:: NC_000016.10:g.88661019_88661031del, NC_000016.10:g.88661020_88661031del, NC_000016.10:g.88661021_88661031del, NC_000016.10:g.88661022_88661031del, NC_000016.10:g.88661023_88661031del, NC_000016.10:g.88661024_88661031del, NC_000016.10:g.88661025_88661031del, NC_000016.10:g.88661026_88661031del, NC_000016.10:g.88661027_88661031del, NC_000016.10:g.88661028_88661031del, NC_000016.10:g.88661029_88661031del, NC_000016.10:g.88661030_88661031del, NC_000016.10:g.88661031del, NC_000016.10:g.88661031dup, NC_000016.10:g.88661030_88661031dup, NC_000016.10:g.88661029_88661031dup, NC_000016.10:g.88661028_88661031dup, NC_000016.10:g.88661027_88661031dup, NC_000016.10:g.88661026_88661031dup, NC_000016.10:g.88661025_88661031dup, NC_000016.10:g.88661024_88661031dup, NC_000016.10:g.88661023_88661031dup, NC_000016.9:g.88727427_88727439del, NC_000016.9:g.88727428_88727439del, NC_000016.9:g.88727429_88727439del, NC_000016.9:g.88727430_88727439del, NC_000016.9:g.88727431_88727439del, NC_000016.9:g.88727432_88727439del, NC_000016.9:g.88727433_88727439del, NC_000016.9:g.88727434_88727439del, NC_000016.9:g.88727435_88727439del, NC_000016.9:g.88727436_88727439del, NC_000016.9:g.88727437_88727439del, NC_000016.9:g.88727438_88727439del, NC_000016.9:g.88727439del, NC_000016.9:g.88727439dup, NC_000016.9:g.88727438_88727439dup, NC_000016.9:g.88727437_88727439dup, NC_000016.9:g.88727436_88727439dup, NC_000016.9:g.88727435_88727439dup, NC_000016.9:g.88727434_88727439dup, NC_000016.9:g.88727433_88727439dup, NC_000016.9:g.88727432_88727439dup, NC_000016.9:g.88727431_88727439dup, NG_052674.1:g.7136_7148del, NG_052674.1:g.7137_7148del, NG_052674.1:g.7138_7148del, NG_052674.1:g.7139_7148del, NG_052674.1:g.7140_7148del, NG_052674.1:g.7141_7148del, NG_052674.1:g.7142_7148del, NG_052674.1:g.7143_7148del, NG_052674.1:g.7144_7148del, NG_052674.1:g.7145_7148del, NG_052674.1:g.7146_7148del, NG_052674.1:g.7147_7148del, NG_052674.1:g.7148del, NG_052674.1:g.7148dup, NG_052674.1:g.7147_7148dup, NG_052674.1:g.7146_7148dup, NG_052674.1:g.7145_7148dup, NG_052674.1:g.7144_7148dup, NG_052674.1:g.7143_7148dup, NG_052674.1:g.7142_7148dup, NG_052674.1:g.7141_7148dup, NG_052674.1:g.7140_7148dup

Select item 14915337903.

rs1491533790 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:88661855 (GRCh38)
16:88728263 (GRCh37)
Canonical SPDI:: NC_000016.10:88661854:GT:
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.007606/34 (ALFA)
-=0.001562/10 (1000Genomes)
-=0.004983/681 (GnomAD)
HGVS:: NC_000016.10:g.88661855_88661856del, NC_000016.9:g.88728263_88728264del, NG_052674.1:g.6298_6299del

Select item 14914963684.

rs1491496368 has merged into rs58831082 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 16:88661091 (GRCh38)
16:88727499 (GRCh37)
Canonical SPDI:: NC_000016.10:88661081:TTTTTTTTTTT:TTTTTTTTT,NC_000016.10:88661081:TTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:88661081:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:88661081:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.005/3 (NorthernSweden)
T=0.039493/662 (TOMMO)
T=0.056709/284 (1000Genomes)
HGVS:: NC_000016.10:g.88661091_88661092del, NC_000016.10:g.88661092del, NC_000016.10:g.88661092dup, NC_000016.10:g.88661091_88661092dup, NC_000016.9:g.88727499_88727500del, NC_000016.9:g.88727500del, NC_000016.9:g.88727500dup, NC_000016.9:g.88727499_88727500dup, NG_052674.1:g.7071_7072del, NG_052674.1:g.7072del, NG_052674.1:g.7072dup, NG_052674.1:g.7071_7072dup

Select item 14912893845.

rs1491289384 has merged into rs60124992 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:88661019 (GRCh38)
16:88727427 (GRCh37)
Canonical SPDI:: NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88661005:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3383/1694 (1000Genomes)
HGVS:: NC_000016.10:g.88661019_88661031del, NC_000016.10:g.88661020_88661031del, NC_000016.10:g.88661021_88661031del, NC_000016.10:g.88661022_88661031del, NC_000016.10:g.88661023_88661031del, NC_000016.10:g.88661024_88661031del, NC_000016.10:g.88661025_88661031del, NC_000016.10:g.88661026_88661031del, NC_000016.10:g.88661027_88661031del, NC_000016.10:g.88661028_88661031del, NC_000016.10:g.88661029_88661031del, NC_000016.10:g.88661030_88661031del, NC_000016.10:g.88661031del, NC_000016.10:g.88661031dup, NC_000016.10:g.88661030_88661031dup, NC_000016.10:g.88661029_88661031dup, NC_000016.10:g.88661028_88661031dup, NC_000016.10:g.88661027_88661031dup, NC_000016.10:g.88661026_88661031dup, NC_000016.10:g.88661025_88661031dup, NC_000016.10:g.88661024_88661031dup, NC_000016.10:g.88661023_88661031dup, NC_000016.9:g.88727427_88727439del, NC_000016.9:g.88727428_88727439del, NC_000016.9:g.88727429_88727439del, NC_000016.9:g.88727430_88727439del, NC_000016.9:g.88727431_88727439del, NC_000016.9:g.88727432_88727439del, NC_000016.9:g.88727433_88727439del, NC_000016.9:g.88727434_88727439del, NC_000016.9:g.88727435_88727439del, NC_000016.9:g.88727436_88727439del, NC_000016.9:g.88727437_88727439del, NC_000016.9:g.88727438_88727439del, NC_000016.9:g.88727439del, NC_000016.9:g.88727439dup, NC_000016.9:g.88727438_88727439dup, NC_000016.9:g.88727437_88727439dup, NC_000016.9:g.88727436_88727439dup, NC_000016.9:g.88727435_88727439dup, NC_000016.9:g.88727434_88727439dup, NC_000016.9:g.88727433_88727439dup, NC_000016.9:g.88727432_88727439dup, NC_000016.9:g.88727431_88727439dup, NG_052674.1:g.7136_7148del, NG_052674.1:g.7137_7148del, NG_052674.1:g.7138_7148del, NG_052674.1:g.7139_7148del, NG_052674.1:g.7140_7148del, NG_052674.1:g.7141_7148del, NG_052674.1:g.7142_7148del, NG_052674.1:g.7143_7148del, NG_052674.1:g.7144_7148del, NG_052674.1:g.7145_7148del, NG_052674.1:g.7146_7148del, NG_052674.1:g.7147_7148del, NG_052674.1:g.7148del, NG_052674.1:g.7148dup, NG_052674.1:g.7147_7148dup, NG_052674.1:g.7146_7148dup, NG_052674.1:g.7145_7148dup, NG_052674.1:g.7144_7148dup, NG_052674.1:g.7143_7148dup, NG_052674.1:g.7142_7148dup, NG_052674.1:g.7141_7148dup, NG_052674.1:g.7140_7148dup

Select item 14912831626.

rs1491283162 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:88664577 (GRCh38)
16:88730985 (GRCh37)
Canonical SPDI:: NC_000016.10:88664576:CA:
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00161/20 (TOMMO)
HGVS:: NC_000016.10:g.88664577_88664578del, NC_000016.9:g.88730985_88730986del, NG_052674.1:g.3576_3577del

Select item 14912335397.

rs1491233539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:88652830 (GRCh38)
16:88719239 (GRCh37)
Canonical SPDI:: NC_000016.10:88652830:GGGGGG:GGGGGGG
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.88652836dup, NC_000016.9:g.88719244dup, NG_052674.1:g.15323dup, NG_007291.1:g.3219dup

Select item 14911845878.

rs1491184587 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 16:88657138 (GRCh38)
16:88723547 (GRCh37)
Canonical SPDI:: NC_000016.10:88657138::C,NC_000016.10:88657138::T
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000018/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.88657138_88657139insC, NC_000016.10:g.88657138_88657139insT, NC_000016.9:g.88723546_88723547insC, NC_000016.9:g.88723546_88723547insT, NG_052674.1:g.11015_11016insG, NG_052674.1:g.11015_11016insA

Select item 14911031909.

rs1491103190 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 16:88657131 (GRCh38)
16:88723540 (GRCh37)
Canonical SPDI:: NC_000016.10:88657131::C,NC_000016.10:88657131::T
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00005/1 (GnomAD_exomes)
T=0.0003/1 (GnomAD)
HGVS:: NC_000016.10:g.88657131_88657132insC, NC_000016.10:g.88657131_88657132insT, NC_000016.9:g.88723539_88723540insC, NC_000016.9:g.88723539_88723540insT, NG_052674.1:g.11022_11023insG, NG_052674.1:g.11022_11023insA

Select item 149080412810.

rs1490804128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88662624 (GRCh38)
16:88729032 (GRCh37)
Canonical SPDI:: NC_000016.10:88662623:C:T
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_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_000016.10:g.88662624C>T, NC_000016.9:g.88729032C>T, NG_052674.1:g.5530G>A

Select item 149066648011.

rs1490666480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88656595 (GRCh38)
16:88723003 (GRCh37)
Canonical SPDI:: NC_000016.10:88656594:G:A
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88656595G>A, NC_000016.9:g.88723003G>A, NG_052674.1:g.11559C>T

Select item 149042678812.

rs1490426788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:88656392 (GRCh38)
16:88722800 (GRCh37)
Canonical SPDI:: NC_000016.10:88656391:C:G
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.88656392C>G, NC_000016.9:g.88722800C>G, NG_052674.1:g.11762G>C

Select item 149035416513.

rs1490354165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88657226 (GRCh38)
16:88723634 (GRCh37)
Canonical SPDI:: NC_000016.10:88657225:G:A
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88657226G>A, NC_000016.9:g.88723634G>A, NG_052674.1:g.10928C>T, XM_011523089.3:c.-29C>T, XM_011523089.2:c.-29C>T, XM_011523089.1:c.-29C>T, XM_011523087.3:c.362C>T, XM_011523087.2:c.362C>T, XM_011523087.1:c.362C>T, XM_011523086.3:c.425C>T, XM_011523086.2:c.425C>T, XM_011523086.1:c.425C>T, XP_011521389.1:p.Ser121Leu, XP_011521388.1:p.Ser142Leu

Select item 149000186014.

rs1490001860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88655259 (GRCh38)
16:88721667 (GRCh37)
Canonical SPDI:: NC_000016.10:88655258:G:A
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88655259G>A, NC_000016.9:g.88721667G>A, NG_052674.1:g.12895C>T, NM_002461.3:c.837C>T, NM_002461.2:c.837C>T, NM_002461.1:c.837C>T, NG_007291.1:g.791C>T, XM_011523089.3:c.486C>T, XM_011523089.2:c.486C>T, XM_011523089.1:c.486C>T, XM_011523087.3:c.876C>T, XM_011523087.2:c.876C>T, XM_011523087.1:c.876C>T, XM_011523086.3:c.939C>T, XM_011523086.2:c.939C>T, XM_011523086.1:c.939C>T, XM_011523088.3:c.774C>T, XM_011523088.2:c.774C>T, XM_011523088.1:c.774C>T

Select item 148998721715.

rs1489987217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:88662262 (GRCh38)
16:88728670 (GRCh37)
Canonical SPDI:: NC_000016.10:88662261:T:G
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88662262T>G, NC_000016.9:g.88728670T>G, NG_052674.1:g.5892A>C

Select item 148994293816.

rs1489942938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88656067 (GRCh38)
16:88722475 (GRCh37)
Canonical SPDI:: NC_000016.10:88656066:C:T
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.88656067C>T, NC_000016.9:g.88722475C>T, NG_052674.1:g.12087G>A

Select item 148982419017.

rs1489824190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:88656372 (GRCh38)
16:88722780 (GRCh37)
Canonical SPDI:: NC_000016.10:88656371:C:G,NC_000016.10:88656371:C:T
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88656372C>G, NC_000016.10:g.88656372C>T, NC_000016.9:g.88722780C>G, NC_000016.9:g.88722780C>T, NG_052674.1:g.11782G>C, NG_052674.1:g.11782G>A

Select item 148939260418.

rs1489392604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88653223 (GRCh38)
16:88719631 (GRCh37)
Canonical SPDI:: NC_000016.10:88653222:T:C
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.88653223T>C, NC_000016.9:g.88719631T>C, NG_052674.1:g.14931A>G, NG_007291.1:g.2827A>G

Select item 148937725519.

rs1489377255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:88652963 (GRCh38)
16:88719371 (GRCh37)
Canonical SPDI:: NC_000016.10:88652962:C:A,NC_000016.10:88652962:C:G,NC_000016.10:88652962:C:T
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.88652963C>A, NC_000016.10:g.88652963C>G, NC_000016.10:g.88652963C>T, NC_000016.9:g.88719371C>A, NC_000016.9:g.88719371C>G, NC_000016.9:g.88719371C>T, NG_052674.1:g.15191G>T, NG_052674.1:g.15191G>C, NG_052674.1:g.15191G>A, NG_007291.1:g.3087G>T, NG_007291.1:g.3087G>C, NG_007291.1:g.3087G>A

Select item 148934822920.

rs1489348229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88657886 (GRCh38)
16:88724294 (GRCh37)
Canonical SPDI:: NC_000016.10:88657885:G:A
Gene:: MVD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88657886G>A, NC_000016.9:g.88724294G>A, NG_052674.1:g.10268C>T

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