SNP Links for Gene (Select 90355) - SNP

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Select item 14915664361.

rs1491566436 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:103261702 (GRCh38)
5:102597403 (GRCh37)
Canonical SPDI:: NC_000005.10:103261700:TCT:T
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00177/21 (ALFA)
HGVS:: NC_000005.10:g.103261702_103261703del, NC_000005.9:g.102597403_102597404del, NW_003871061.1:g.176569_176570del

Select item 14912337672.

rs1491233767 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:103261681 (GRCh38)
5:102597383 (GRCh37)
Canonical SPDI:: NC_000005.10:103261681:C:CC
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000025/3 (GnomAD)
C=0.001957/33 (TOMMO)
HGVS:: NC_000005.10:g.103261682dup, NC_000005.9:g.102597383dup, NW_003871061.1:g.176549dup

Select item 14911660293.

rs1491166029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:103261701 (GRCh38)
5:102597403 (GRCh37)
Canonical SPDI:: NC_000005.10:103261701:C:CC
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000066/7 (GnomAD)
HGVS:: NC_000005.10:g.103261702dup, NC_000005.9:g.102597403dup, NW_003871061.1:g.176569dup

Select item 14911455624.

rs1491145562 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:103261682 (GRCh38)
5:102597383 (GRCh37)
Canonical SPDI:: NC_000005.10:103261680:TCT:T
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.103261682_103261683del, NC_000005.9:g.102597383_102597384del, NW_003871061.1:g.176549_176550del

Select item 14909612355.

rs1490961235 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:103265497 (GRCh38)
5:102601198 (GRCh37)
Canonical SPDI:: NC_000005.10:103265496:CC:C
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.103265498del, NC_000005.9:g.102601199del, NW_003871061.1:g.180365del

Select item 14906868896.

rs1490686889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:103264333 (GRCh38)
5:102600034 (GRCh37)
Canonical SPDI:: NC_000005.10:103264332:A:G
Gene:: MACIR (Varview)
Functional Consequence:: 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_000005.10:g.103264333A>G, NC_000005.9:g.102600034A>G, NW_003871061.1:g.179200A>G

Select item 14906469917.

rs1490646991 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTA>- [Show Flanks]
Chromosome:: 5:103274412 (GRCh38)
5:102610113 (GRCh37)
Canonical SPDI:: NC_000005.10:103274408:TTACTTTA:TTA
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.103274412_103274416del, NC_000005.9:g.102610113_102610117del, NW_003871061.1:g.189279_189283del

Select item 14906215818.

rs1490621581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:103273349 (GRCh38)
5:102609050 (GRCh37)
Canonical SPDI:: NC_000005.10:103273348:T:A,NC_000005.10:103273348:T:C
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00004/0 (TOMMO)
HGVS:: NC_000005.10:g.103273349T>A, NC_000005.10:g.103273349T>C, NC_000005.9:g.102609050T>A, NC_000005.9:g.102609050T>C, NW_003871061.1:g.188216T>A, NW_003871061.1:g.188216T>C

Select item 14905228979.

rs1490522897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:103264915 (GRCh38)
5:102600616 (GRCh37)
Canonical SPDI:: NC_000005.10:103264914:C:T
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.103264915C>T, NC_000005.9:g.102600616C>T, NW_003871061.1:g.179782C>T

Select item 149048144110.

rs1490481441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:103258386 (GRCh38)
5:102594087 (GRCh37)
Canonical SPDI:: NC_000005.10:103258385:G:A,NC_000005.10:103258385:G:C
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.103258386G>A, NC_000005.10:g.103258386G>C, NC_000005.9:g.102594087G>A, NC_000005.9:g.102594087G>C, NW_003871061.1:g.173253G>A, NW_003871061.1:g.173253G>C, NM_001377283.1:c.-163G>A, NM_001377283.1:c.-163G>C

Select item 149024570211.

rs1490245702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:103271213 (GRCh38)
5:102606914 (GRCh37)
Canonical SPDI:: NC_000005.10:103271212:A:G
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.103271213A>G, NC_000005.9:g.102606914A>G, NW_003871061.1:g.186080A>G

Select item 149000959312.

rs1490009593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:103256724 (GRCh38)
5:102592425 (GRCh37)
Canonical SPDI:: NC_000005.10:103256723:G:T
Gene:: MACIR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.103256724G>T, NC_000005.9:g.102592425G>T, NW_003871061.1:g.171591G>T

Select item 148998443313.

rs1489984433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:103257943 (GRCh38)
5:102593644 (GRCh37)
Canonical SPDI:: NC_000005.10:103257942:G:A
Gene:: MACIR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.103257943G>A, NC_000005.9:g.102593644G>A, NW_003871061.1:g.172810G>A

Select item 148980796614.

rs1489807966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:103272811 (GRCh38)
5:102608512 (GRCh37)
Canonical SPDI:: NC_000005.10:103272810:G:T
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.103272811G>T, NC_000005.9:g.102608512G>T, NW_003871061.1:g.187678G>T

Select item 148976062615.

rs1489760626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:103265574 (GRCh38)
5:102601275 (GRCh37)
Canonical SPDI:: NC_000005.10:103265573:G:C
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.103265574G>C, NC_000005.9:g.102601275G>C, NW_003871061.1:g.180441G>C

Select item 148971759716.

rs1489717597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:103271785 (GRCh38)
5:102607486 (GRCh37)
Canonical SPDI:: NC_000005.10:103271784:A:T
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.103271785A>T, NC_000005.9:g.102607486A>T, NW_003871061.1:g.186652A>T

Select item 148951800017.

rs1489518000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:103256868 (GRCh38)
5:102592569 (GRCh37)
Canonical SPDI:: NC_000005.10:103256867:C:G
Gene:: MACIR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.103256868C>G, NC_000005.9:g.102592569C>G, NW_003871061.1:g.171735C>G

Select item 148930418118.

rs1489304181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:103262489 (GRCh38)
5:102598190 (GRCh37)
Canonical SPDI:: NC_000005.10:103262488:A:G
Gene:: MACIR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.103262489A>G, NC_000005.9:g.102598190A>G, NW_003871061.1:g.177356A>G

Select item 148916636119.

rs1489166361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:103271807 (GRCh38)
5:102607508 (GRCh37)
Canonical SPDI:: NC_000005.10:103271806:C:T
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.103271807C>T, NC_000005.9:g.102607508C>T, NW_003871061.1:g.186674C>T

Select item 148906492420.

rs1489064924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:103270705 (GRCh38)
5:102606406 (GRCh37)
Canonical SPDI:: NC_000005.10:103270704:A:T
Gene:: MACIR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.103270705A>T, NC_000005.9:g.102606406A>T, NW_003871061.1:g.185572A>T

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