SNP Links for Gene (Select 100505839) - SNP

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Select item 14911436341.

rs1491143634 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:103753495 (GRCh38)
10:105513253 (GRCh37)
Canonical SPDI:: NC_000010.11:103753494:CA:
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000010.11:g.103753495_103753496del, NC_000010.10:g.105513253_105513254del

Select item 14895677562.

rs1489567756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103747376 (GRCh38)
10:105507134 (GRCh37)
Canonical SPDI:: NC_000010.11:103747375:C:T
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.103747376C>T, NC_000010.10:g.105507134C>T

Select item 14895188923.

rs1489518892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:103748388 (GRCh38)
10:105508146 (GRCh37)
Canonical SPDI:: NC_000010.11:103748387:T:C
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000010.11:g.103748388T>C, NC_000010.10:g.105508146T>C

Select item 14886736164.

rs1488673616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103755855 (GRCh38)
10:105515613 (GRCh37)
Canonical SPDI:: NC_000010.11:103755854:A:G
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.103755855A>G, NC_000010.10:g.105515613A>G

Select item 14880200415.

rs1488020041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103746728 (GRCh38)
10:105506486 (GRCh37)
Canonical SPDI:: NC_000010.11:103746727:C:T
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.103746728C>T, NC_000010.10:g.105506486C>T

Select item 14878814236.

rs1487881423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:103746631 (GRCh38)
10:105506389 (GRCh37)
Canonical SPDI:: NC_000010.11:103746630:T:C
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.103746631T>C, NC_000010.10:g.105506389T>C

Select item 14875580327.

rs1487558032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:103745631 (GRCh38)
10:105505389 (GRCh37)
Canonical SPDI:: NC_000010.11:103745630:C:G,NC_000010.11:103745630:C:T
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103745631C>G, NC_000010.11:g.103745631C>T, NC_000010.10:g.105505389C>G, NC_000010.10:g.105505389C>T

Select item 14873895028.

rs1487389502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103747444 (GRCh38)
10:105507202 (GRCh37)
Canonical SPDI:: NC_000010.11:103747443:C:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000010.11:g.103747444C>A, NC_000010.10:g.105507202C>A

Select item 14870857779.

rs1487085777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103746368 (GRCh38)
10:105506126 (GRCh37)
Canonical SPDI:: NC_000010.11:103746367:G:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.103746368G>A, NC_000010.10:g.105506126G>A

Select item 148664769110.

rs1486647691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103745293 (GRCh38)
10:105505051 (GRCh37)
Canonical SPDI:: NC_000010.11:103745292:G:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103745293G>A, NC_000010.10:g.105505051G>A

Select item 148653167111.

rs1486531671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103753612 (GRCh38)
10:105513370 (GRCh37)
Canonical SPDI:: NC_000010.11:103753611:A:G
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000043/6 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.103753612A>G, NC_000010.10:g.105513370A>G

Select item 148652129012.

rs1486521290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103753421 (GRCh38)
10:105513179 (GRCh37)
Canonical SPDI:: NC_000010.11:103753420:A:C
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103753421A>C, NC_000010.10:g.105513179A>C

Select item 148630761713.

rs1486307617 has merged into rs60364879 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:103753330 (GRCh38)
10:105513088 (GRCh37)
Canonical SPDI:: NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:103753317:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.2043/1023 (1000Genomes)
HGVS:: NC_000010.11:g.103753330_103753346del, NC_000010.11:g.103753331_103753346del, NC_000010.11:g.103753332_103753346del, NC_000010.11:g.103753333_103753346del, NC_000010.11:g.103753334_103753346del, NC_000010.11:g.103753335_103753346del, NC_000010.11:g.103753336_103753346del, NC_000010.11:g.103753337_103753346del, NC_000010.11:g.103753338_103753346del, NC_000010.11:g.103753339_103753346del, NC_000010.11:g.103753340_103753346del, NC_000010.11:g.103753341_103753346del, NC_000010.11:g.103753342_103753346del, NC_000010.11:g.103753343_103753346del, NC_000010.11:g.103753344_103753346del, NC_000010.11:g.103753345_103753346del, NC_000010.11:g.103753346del, NC_000010.11:g.103753346dup, NC_000010.11:g.103753345_103753346dup, NC_000010.11:g.103753344_103753346dup, NC_000010.11:g.103753343_103753346dup, NC_000010.11:g.103753342_103753346dup, NC_000010.11:g.103753341_103753346dup, NC_000010.11:g.103753340_103753346dup, NC_000010.11:g.103753339_103753346dup, NC_000010.11:g.103753338_103753346dup, NC_000010.11:g.103753335_103753346dup, NC_000010.11:g.103753329_103753346dup, NC_000010.10:g.105513088_105513104del, NC_000010.10:g.105513089_105513104del, NC_000010.10:g.105513090_105513104del, NC_000010.10:g.105513091_105513104del, NC_000010.10:g.105513092_105513104del, NC_000010.10:g.105513093_105513104del, NC_000010.10:g.105513094_105513104del, NC_000010.10:g.105513095_105513104del, NC_000010.10:g.105513096_105513104del, NC_000010.10:g.105513097_105513104del, NC_000010.10:g.105513098_105513104del, NC_000010.10:g.105513099_105513104del, NC_000010.10:g.105513100_105513104del, NC_000010.10:g.105513101_105513104del, NC_000010.10:g.105513102_105513104del, NC_000010.10:g.105513103_105513104del, NC_000010.10:g.105513104del, NC_000010.10:g.105513104dup, NC_000010.10:g.105513103_105513104dup, NC_000010.10:g.105513102_105513104dup, NC_000010.10:g.105513101_105513104dup, NC_000010.10:g.105513100_105513104dup, NC_000010.10:g.105513099_105513104dup, NC_000010.10:g.105513098_105513104dup, NC_000010.10:g.105513097_105513104dup, NC_000010.10:g.105513096_105513104dup, NC_000010.10:g.105513093_105513104dup, NC_000010.10:g.105513087_105513104dup

Select item 148629125914.

rs1486291259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103751200 (GRCh38)
10:105510958 (GRCh37)
Canonical SPDI:: NC_000010.11:103751199:A:G
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103751200A>G, NC_000010.10:g.105510958A>G

Select item 148621176715.

rs1486211767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103752429 (GRCh38)
10:105512187 (GRCh37)
Canonical SPDI:: NC_000010.11:103752428:G:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.103752429G>A, NC_000010.10:g.105512187G>A

Select item 148470137316.

rs1484701373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103752536 (GRCh38)
10:105512294 (GRCh37)
Canonical SPDI:: NC_000010.11:103752535:G:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000010.11:g.103752536G>A, NC_000010.10:g.105512294G>A

Select item 148435321017.

rs1484353210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103752298 (GRCh38)
10:105512056 (GRCh37)
Canonical SPDI:: NC_000010.11:103752297:G:A
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.103752298G>A, NC_000010.10:g.105512056G>A

Select item 148416552918.

rs1484165529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:103750984 (GRCh38)
10:105510742 (GRCh37)
Canonical SPDI:: NC_000010.11:103750983:C:G,NC_000010.11:103750983:C:T
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103750984C>G, NC_000010.11:g.103750984C>T, NC_000010.10:g.105510742C>G, NC_000010.10:g.105510742C>T

Select item 148392999319.

rs1483929993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:103748379 (GRCh38)
10:105508137 (GRCh37)
Canonical SPDI:: NC_000010.11:103748378:C:G
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000010.11:g.103748379C>G, NC_000010.10:g.105508137C>G

Select item 148377249720.

rs1483772497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:103753139 (GRCh38)
10:105512897 (GRCh37)
Canonical SPDI:: NC_000010.11:103753138:G:T
Gene:: SH3PXD2A (Varview), SH3PXD2A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103753139G>T, NC_000010.10:g.105512897G>T

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