SNP Links for Gene (Select 3674) - SNP

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Select item 14913195821.

rs1491319582 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:44381335 (GRCh38)
17:42458704 (GRCh37)
Canonical SPDI:: NC_000017.11:44381335::C
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.44381335_44381336insC, NC_000017.10:g.42458703_42458704insC, NG_008331.1:g.13170_13171insG

Select item 14912273372.

rs1491227337 has merged into rs758076614 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:44388828 (GRCh38)
17:42466196 (GRCh37)
Canonical SPDI:: NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44388818:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.44388828_44388836del, NC_000017.11:g.44388829_44388836del, NC_000017.11:g.44388830_44388836del, NC_000017.11:g.44388832_44388836del, NC_000017.11:g.44388833_44388836del, NC_000017.11:g.44388834_44388836del, NC_000017.11:g.44388835_44388836del, NC_000017.11:g.44388836del, NC_000017.11:g.44388836dup, NC_000017.11:g.44388835_44388836dup, NC_000017.11:g.44388834_44388836dup, NC_000017.11:g.44388833_44388836dup, NC_000017.11:g.44388832_44388836dup, NC_000017.11:g.44388831_44388836dup, NC_000017.11:g.44388830_44388836dup, NC_000017.11:g.44388829_44388836dup, NC_000017.11:g.44388828_44388836dup, NC_000017.11:g.44388827_44388836dup, NC_000017.11:g.44388826_44388836dup, NC_000017.11:g.44388825_44388836dup, NC_000017.11:g.44388824_44388836dup, NC_000017.11:g.44388823_44388836dup, NC_000017.11:g.44388822_44388836dup, NC_000017.11:g.44388821_44388836dup, NC_000017.11:g.44388820_44388836dup, NC_000017.11:g.44388836_44388837insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42466196_42466204del, NC_000017.10:g.42466197_42466204del, NC_000017.10:g.42466198_42466204del, NC_000017.10:g.42466200_42466204del, NC_000017.10:g.42466201_42466204del, NC_000017.10:g.42466202_42466204del, NC_000017.10:g.42466203_42466204del, NC_000017.10:g.42466204del, NC_000017.10:g.42466204dup, NC_000017.10:g.42466203_42466204dup, NC_000017.10:g.42466202_42466204dup, NC_000017.10:g.42466201_42466204dup, NC_000017.10:g.42466200_42466204dup, NC_000017.10:g.42466199_42466204dup, NC_000017.10:g.42466198_42466204dup, NC_000017.10:g.42466197_42466204dup, NC_000017.10:g.42466196_42466204dup, NC_000017.10:g.42466195_42466204dup, NC_000017.10:g.42466194_42466204dup, NC_000017.10:g.42466193_42466204dup, NC_000017.10:g.42466192_42466204dup, NC_000017.10:g.42466191_42466204dup, NC_000017.10:g.42466190_42466204dup, NC_000017.10:g.42466189_42466204dup, NC_000017.10:g.42466188_42466204dup, NC_000017.10:g.42466204_42466205insTTTTTTTTTTTTTTTTTTT, NG_008331.1:g.5679_5687del, NG_008331.1:g.5680_5687del, NG_008331.1:g.5681_5687del, NG_008331.1:g.5683_5687del, NG_008331.1:g.5684_5687del, NG_008331.1:g.5685_5687del, NG_008331.1:g.5686_5687del, NG_008331.1:g.5687del, NG_008331.1:g.5687dup, NG_008331.1:g.5686_5687dup, NG_008331.1:g.5685_5687dup, NG_008331.1:g.5684_5687dup, NG_008331.1:g.5683_5687dup, NG_008331.1:g.5682_5687dup, NG_008331.1:g.5681_5687dup, NG_008331.1:g.5680_5687dup, NG_008331.1:g.5679_5687dup, NG_008331.1:g.5678_5687dup, NG_008331.1:g.5677_5687dup, NG_008331.1:g.5676_5687dup, NG_008331.1:g.5675_5687dup, NG_008331.1:g.5674_5687dup, NG_008331.1:g.5673_5687dup, NG_008331.1:g.5672_5687dup, NG_008331.1:g.5671_5687dup, NG_008331.1:g.5687_5688insAAAAAAAAAAAAAAAAAAA

Select item 14911242563.

rs1491124256 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:44388819 (GRCh38)
17:42466188 (GRCh37)
Canonical SPDI:: NC_000017.11:44388819::C
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.44388819_44388820insC, NC_000017.10:g.42466187_42466188insC, NG_008331.1:g.5686_5687insG

Select item 14909638084.

rs1490963808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44378862 (GRCh38)
17:42456230 (GRCh37)
Canonical SPDI:: NC_000017.11:44378861:G:A
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.44378862G>A, NC_000017.10:g.42456230G>A, NG_008331.1:g.15644C>T

Select item 14908750115.

rs1490875011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44389762 (GRCh38)
17:42467130 (GRCh37)
Canonical SPDI:: NC_000017.11:44389761:T:C
Gene:: ITGA2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000017.11:g.44389762T>C, NC_000017.10:g.42467130T>C, NG_008331.1:g.4744A>G

Select item 14907579246.

rs1490757924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44387176 (GRCh38)
17:42464544 (GRCh37)
Canonical SPDI:: NC_000017.11:44387175:T:C
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44387176T>C, NC_000017.10:g.42464544T>C, NG_008331.1:g.7330A>G

Select item 14907374467.

rs1490737446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:44372091 (GRCh38)
17:42449459 (GRCh37)
Canonical SPDI:: NC_000017.11:44372090:G:A,NC_000017.11:44372090:G:T
Gene:: ITGA2B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.44372091G>A, NC_000017.11:g.44372091G>T, NC_000017.10:g.42449459G>A, NC_000017.10:g.42449459G>T, NG_008331.1:g.22415C>T, NG_008331.1:g.22415C>A

Select item 14905904458.

rs1490590445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44386651 (GRCh38)
17:42464019 (GRCh37)
Canonical SPDI:: NC_000017.11:44386650:G:A
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44386651G>A, NC_000017.10:g.42464019G>A, NG_008331.1:g.7855C>T

Select item 14905377649.

rs1490537764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44371749 (GRCh38)
17:42449117 (GRCh37)
Canonical SPDI:: NC_000017.11:44371748:G:A
Gene:: ITGA2B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44371749G>A, NC_000017.10:g.42449117G>A, NG_008331.1:g.22757C>T

Select item 149038360310.

rs1490383603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:44390866 (GRCh38)
17:42468234 (GRCh37)
Canonical SPDI:: NC_000017.11:44390865:G:T
Gene:: ITGA2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44390866G>T, NC_000017.10:g.42468234G>T, NG_008331.1:g.3640C>A

Select item 149015576211.

rs1490155762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44388321 (GRCh38)
17:42465689 (GRCh37)
Canonical SPDI:: NC_000017.11:44388320:A:G
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.44388321A>G, NC_000017.10:g.42465689A>G, NG_008331.1:g.6185T>C

Select item 148999148712.

rs1489991487 has merged into rs980395817 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:44387838 (GRCh38)
17:42465206 (GRCh37)
Canonical SPDI:: NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44387826:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.44387838_44387854del, NC_000017.11:g.44387839_44387854del, NC_000017.11:g.44387840_44387854del, NC_000017.11:g.44387841_44387854del, NC_000017.11:g.44387842_44387854del, NC_000017.11:g.44387843_44387854del, NC_000017.11:g.44387844_44387854del, NC_000017.11:g.44387845_44387854del, NC_000017.11:g.44387846_44387854del, NC_000017.11:g.44387847_44387854del, NC_000017.11:g.44387848_44387854del, NC_000017.11:g.44387849_44387854del, NC_000017.11:g.44387850_44387854del, NC_000017.11:g.44387851_44387854del, NC_000017.11:g.44387852_44387854del, NC_000017.11:g.44387853_44387854del, NC_000017.11:g.44387854del, NC_000017.11:g.44387854dup, NC_000017.11:g.44387853_44387854dup, NC_000017.11:g.44387852_44387854dup, NC_000017.11:g.44387851_44387854dup, NC_000017.11:g.44387850_44387854dup, NC_000017.11:g.44387849_44387854dup, NC_000017.11:g.44387848_44387854dup, NC_000017.11:g.44387847_44387854dup, NC_000017.11:g.44387846_44387854dup, NC_000017.11:g.44387845_44387854dup, NC_000017.11:g.44387844_44387854dup, NC_000017.11:g.44387843_44387854dup, NC_000017.11:g.44387842_44387854dup, NC_000017.11:g.44387841_44387854dup, NC_000017.11:g.44387840_44387854dup, NC_000017.11:g.44387839_44387854dup, NC_000017.11:g.44387838_44387854dup, NC_000017.11:g.44387837_44387854dup, NC_000017.11:g.44387836_44387854dup, NC_000017.11:g.44387835_44387854dup, NC_000017.11:g.44387834_44387854dup, NC_000017.11:g.44387833_44387854dup, NC_000017.11:g.44387828_44387854dup, NC_000017.10:g.42465206_42465222del, NC_000017.10:g.42465207_42465222del, NC_000017.10:g.42465208_42465222del, NC_000017.10:g.42465209_42465222del, NC_000017.10:g.42465210_42465222del, NC_000017.10:g.42465211_42465222del, NC_000017.10:g.42465212_42465222del, NC_000017.10:g.42465213_42465222del, NC_000017.10:g.42465214_42465222del, NC_000017.10:g.42465215_42465222del, NC_000017.10:g.42465216_42465222del, NC_000017.10:g.42465217_42465222del, NC_000017.10:g.42465218_42465222del, NC_000017.10:g.42465219_42465222del, NC_000017.10:g.42465220_42465222del, NC_000017.10:g.42465221_42465222del, NC_000017.10:g.42465222del, NC_000017.10:g.42465222dup, NC_000017.10:g.42465221_42465222dup, NC_000017.10:g.42465220_42465222dup, NC_000017.10:g.42465219_42465222dup, NC_000017.10:g.42465218_42465222dup, NC_000017.10:g.42465217_42465222dup, NC_000017.10:g.42465216_42465222dup, NC_000017.10:g.42465215_42465222dup, NC_000017.10:g.42465214_42465222dup, NC_000017.10:g.42465213_42465222dup, NC_000017.10:g.42465212_42465222dup, NC_000017.10:g.42465211_42465222dup, NC_000017.10:g.42465210_42465222dup, NC_000017.10:g.42465209_42465222dup, NC_000017.10:g.42465208_42465222dup, NC_000017.10:g.42465207_42465222dup, NC_000017.10:g.42465206_42465222dup, NC_000017.10:g.42465205_42465222dup, NC_000017.10:g.42465204_42465222dup, NC_000017.10:g.42465203_42465222dup, NC_000017.10:g.42465202_42465222dup, NC_000017.10:g.42465201_42465222dup, NC_000017.10:g.42465196_42465222dup, NG_008331.1:g.6663_6679del, NG_008331.1:g.6664_6679del, NG_008331.1:g.6665_6679del, NG_008331.1:g.6666_6679del, NG_008331.1:g.6667_6679del, NG_008331.1:g.6668_6679del, NG_008331.1:g.6669_6679del, NG_008331.1:g.6670_6679del, NG_008331.1:g.6671_6679del, NG_008331.1:g.6672_6679del, NG_008331.1:g.6673_6679del, NG_008331.1:g.6674_6679del, NG_008331.1:g.6675_6679del, NG_008331.1:g.6676_6679del, NG_008331.1:g.6677_6679del, NG_008331.1:g.6678_6679del, NG_008331.1:g.6679del, NG_008331.1:g.6679dup, NG_008331.1:g.6678_6679dup, NG_008331.1:g.6677_6679dup, NG_008331.1:g.6676_6679dup, NG_008331.1:g.6675_6679dup, NG_008331.1:g.6674_6679dup, NG_008331.1:g.6673_6679dup, NG_008331.1:g.6672_6679dup, NG_008331.1:g.6671_6679dup, NG_008331.1:g.6670_6679dup, NG_008331.1:g.6669_6679dup, NG_008331.1:g.6668_6679dup, NG_008331.1:g.6667_6679dup, NG_008331.1:g.6666_6679dup, NG_008331.1:g.6665_6679dup, NG_008331.1:g.6664_6679dup, NG_008331.1:g.6663_6679dup, NG_008331.1:g.6662_6679dup, NG_008331.1:g.6661_6679dup, NG_008331.1:g.6660_6679dup, NG_008331.1:g.6659_6679dup, NG_008331.1:g.6658_6679dup, NG_008331.1:g.6653_6679dup

Select item 148985122613.

rs1489851226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:44387623 (GRCh38)
17:42464991 (GRCh37)
Canonical SPDI:: NC_000017.11:44387622:C:G,NC_000017.11:44387622:C:T
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.44387623C>G, NC_000017.11:g.44387623C>T, NC_000017.10:g.42464991C>G, NC_000017.10:g.42464991C>T, NG_008331.1:g.6883G>C, NG_008331.1:g.6883G>A

Select item 148984558914.

rs1489845589 has merged into rs540432584 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 17:44379124 (GRCh38)
17:42456492 (GRCh37)
Canonical SPDI:: NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:44379113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0008/4 (1000Genomes)
-=0.015/9 (NorthernSweden)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000017.11:g.44379124_44379129del, NC_000017.11:g.44379127_44379129del, NC_000017.11:g.44379128_44379129del, NC_000017.11:g.44379129del, NC_000017.11:g.44379129dup, NC_000017.11:g.44379128_44379129dup, NC_000017.11:g.44379127_44379129dup, NC_000017.10:g.42456492_42456497del, NC_000017.10:g.42456495_42456497del, NC_000017.10:g.42456496_42456497del, NC_000017.10:g.42456497del, NC_000017.10:g.42456497dup, NC_000017.10:g.42456496_42456497dup, NC_000017.10:g.42456495_42456497dup, NG_008331.1:g.15387_15392del, NG_008331.1:g.15390_15392del, NG_008331.1:g.15391_15392del, NG_008331.1:g.15392del, NG_008331.1:g.15392dup, NG_008331.1:g.15391_15392dup, NG_008331.1:g.15390_15392dup

Select item 148978291215.

rs1489782912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:44380111 (GRCh38)
17:42457479 (GRCh37)
Canonical SPDI:: NC_000017.11:44380110:T:A
Gene:: ITGA2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44380111T>A, NC_000017.10:g.42457479T>A, NG_008331.1:g.14395A>T, NM_000419.5:c.1643A>T, NM_000419.4:c.1643A>T, NM_000419.3:c.1643A>T, XM_011524749.2:c.1796A>T, XM_011524749.1:c.1643A>T, XM_011524750.2:c.1796A>T, XM_011524750.1:c.1643A>T, NP_000410.2:p.Gln548Leu, XP_011523051.2:p.Gln599Leu, XP_011523052.2:p.Gln599Leu

Select item 148969246516.

rs1489692465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44385503 (GRCh38)
17:42462871 (GRCh37)
Canonical SPDI:: NC_000017.11:44385502:G:A
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44385503G>A, NC_000017.10:g.42462871G>A, NG_008331.1:g.9003C>T

Select item 148947500317.

rs1489475003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44381764 (GRCh38)
17:42459132 (GRCh37)
Canonical SPDI:: NC_000017.11:44381763:G:A
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44381764G>A, NC_000017.10:g.42459132G>A, NG_008331.1:g.12742C>T

Select item 148941539618.

rs1489415396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:44375644 (GRCh38)
17:42453012 (GRCh37)
Canonical SPDI:: NC_000017.11:44375643:T:G
Gene:: ITGA2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44375644T>G, NC_000017.10:g.42453012T>G, NG_008331.1:g.18862A>C, NM_000419.5:c.2674A>C, NM_000419.4:c.2674A>C, NM_000419.3:c.2674A>C, XM_011524749.2:c.2827A>C, XM_011524749.1:c.2674A>C, XM_011524750.2:c.2827A>C, XM_011524750.1:c.2674A>C, NP_000410.2:p.Ile892Leu, XP_011523051.2:p.Ile943Leu, XP_011523052.2:p.Ile943Leu

Select item 148924928119.

rs1489249281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44372987 (GRCh38)
17:42450355 (GRCh37)
Canonical SPDI:: NC_000017.11:44372986:C:T
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.44372987C>T, NC_000017.10:g.42450355C>T, NG_008331.1:g.21519G>A

Select item 148898059620.

rs1488980596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44376927 (GRCh38)
17:42454295 (GRCh37)
Canonical SPDI:: NC_000017.11:44376926:T:C
Gene:: ITGA2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.44376927T>C, NC_000017.10:g.42454295T>C, NG_008331.1:g.17579A>G

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