SNP Links for Gene (Select 202309) - SNP

Links from Gene

Items: 1 to 20 of 1736

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Select item 14909782731.

rs1490978273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:58490760 (GRCh38)
5:57786587 (GRCh37)
Canonical SPDI:: NC_000005.10:58490759:A:G
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.58490760A>G, NC_000005.9:g.57786587A>G

Select item 14909326782.

rs1490932678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:58489772 (GRCh38)
5:57785599 (GRCh37)
Canonical SPDI:: NC_000005.10:58489771:T:G
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.58489772T>G, NC_000005.9:g.57785599T>G

Select item 14904412173.

rs1490441217 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:58490245 (GRCh38)
5:57786073 (GRCh37)
Canonical SPDI:: NC_000005.10:58490245:C:CC
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.58490246dup, NC_000005.9:g.57786073dup

Select item 14899964714.

rs1489996471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:58491652 (GRCh38)
5:57787479 (GRCh37)
Canonical SPDI:: NC_000005.10:58491651:C:T
Gene:: GAPT (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.58491652C>T, NC_000005.9:g.57787479C>T

Select item 14899491225.

rs1489949122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:58490666 (GRCh38)
5:57786493 (GRCh37)
Canonical SPDI:: NC_000005.10:58490665:A:G
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.58490666A>G, NC_000005.9:g.57786493A>G

Select item 14896037476.

rs1489603747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:58492654 (GRCh38)
5:57788481 (GRCh37)
Canonical SPDI:: NC_000005.10:58492653:T:C
Gene:: GAPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.58492654T>C, NC_000005.9:g.57788481T>C

Select item 14891463357.

rs1489146335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:58491668 (GRCh38)
5:57787495 (GRCh37)
Canonical SPDI:: NC_000005.10:58491667:G:A,NC_000005.10:58491667:G:C
Gene:: GAPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.58491668G>A, NC_000005.10:g.58491668G>C, NC_000005.9:g.57787495G>A, NC_000005.9:g.57787495G>C

Select item 14888420808.

rs1488842080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:58496828 (GRCh38)
5:57792655 (GRCh37)
Canonical SPDI:: NC_000005.10:58496827:C:T
Gene:: GAPT (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.58496828C>T, NC_000005.9:g.57792655C>T, NM_152687.4:c.*1818C>T, NM_001304429.2:c.*1818C>T, NM_001304431.2:c.*1818C>T

Select item 14883967189.

rs1488396718 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:58489815 (GRCh38)
5:57785642 (GRCh37)
Canonical SPDI:: NC_000005.10:58489814:CC:C
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000498/7 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000414/58 (GnomAD)
-=0.00045/119 (TOPMED)
HGVS:: NC_000005.10:g.58489816del, NC_000005.9:g.57785643del

Select item 148787429810.

rs1487874298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:58494191 (GRCh38)
5:57790018 (GRCh37)
Canonical SPDI:: NC_000005.10:58494190:T:C
Gene:: GAPT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.58494191T>C, NC_000005.9:g.57790018T>C, NM_001304428.2:c.-346T>C, NM_001304428.1:c.-346T>C, XM_047416909.1:c.-346T>C, XM_047416910.1:c.-346T>C

Select item 148774024511.

rs1487740245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:58491854 (GRCh38)
5:57787681 (GRCh37)
Canonical SPDI:: NC_000005.10:58491853:A:G
Gene:: GAPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.58491854A>G, NC_000005.9:g.57787681A>G

Select item 148763551912.

rs1487635519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:58493641 (GRCh38)
5:57789468 (GRCh37)
Canonical SPDI:: NC_000005.10:58493640:C:T
Gene:: GAPT (Varview)
Functional Consequence:: 5_prime_UTR_variant,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.58493641C>T, NC_000005.9:g.57789468C>T, NM_152687.4:c.-333C>T, NM_152687.3:c.-333C>T, NM_152687.2:c.-333C>T, NM_001304429.2:c.-488C>T, NM_001304429.1:c.-488C>T, XM_047416909.1:c.-590C>T, XM_047416910.1:c.-435C>T

Select item 148754805913.

rs1487548059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:58493114 (GRCh38)
5:57788941 (GRCh37)
Canonical SPDI:: NC_000005.10:58493113:C:T
Gene:: GAPT (Varview)
Functional Consequence:: intron_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_000005.10:g.58493114C>T, NC_000005.9:g.57788941C>T

Select item 148732124314.

rs1487321243 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAT>- [Show Flanks]
Chromosome:: 5:58491609 (GRCh38)
5:57787436 (GRCh37)
Canonical SPDI:: NC_000005.10:58491603:TTAATTAAT:TTAAT
Gene:: GAPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAAT=0.000066/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.58491605TAAT[1], NC_000005.9:g.57787432TAAT[1]

Select item 148728995615.

rs1487289956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:58493887 (GRCh38)
5:57789714 (GRCh37)
Canonical SPDI:: NC_000005.10:58493886:G:C,NC_000005.10:58493886:G:T
Gene:: GAPT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00201/9 (ALFA)
C=0.00007/1 (TOMMO)
T=0.00179/8 (Estonian)
HGVS:: NC_000005.10:g.58493887G>C, NC_000005.10:g.58493887G>T, NC_000005.9:g.57789714G>C, NC_000005.9:g.57789714G>T

Select item 148723875916.

rs1487238759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:58493724 (GRCh38)
5:57789551 (GRCh37)
Canonical SPDI:: NC_000005.10:58493723:A:G
Gene:: GAPT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.58493724A>G, NC_000005.9:g.57789551A>G, NM_001304429.2:c.-405A>G, NM_001304429.1:c.-405A>G, NM_001304431.2:c.-405A>G, NM_001304431.1:c.-405A>G, NM_001304428.2:c.-504A>G, NM_001304428.1:c.-504A>G, XM_047416909.1:c.-507A>G

Select item 148571711017.

rs1485717110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:58491542 (GRCh38)
5:57787369 (GRCh37)
Canonical SPDI:: NC_000005.10:58491541:G:A
Gene:: GAPT (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.58491542G>A, NC_000005.9:g.57787369G>A

Select item 148566717818.

rs1485667178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:58490553 (GRCh38)
5:57786380 (GRCh37)
Canonical SPDI:: NC_000005.10:58490552:C:T
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.58490553C>T, NC_000005.9:g.57786380C>T

Select item 148547756419.

rs1485477564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:58496134 (GRCh38)
5:57791961 (GRCh37)
Canonical SPDI:: NC_000005.10:58496133:A:C
Gene:: GAPT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.58496134A>C, NC_000005.9:g.57791961A>C, NM_152687.4:c.*1124A>C, NM_152687.3:c.*1124A>C, NM_152687.2:c.*1124A>C, NM_001304429.2:c.*1124A>C, NM_001304429.1:c.*1124A>C, NM_001304431.2:c.*1124A>C, NM_001304431.1:c.*1124A>C, NM_001304428.2:c.*1124A>C, NM_001304428.1:c.*1124A>C

Select item 148535314220.

rs1485353142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:58489589 (GRCh38)
5:57785416 (GRCh37)
Canonical SPDI:: NC_000005.10:58489588:C:G,NC_000005.10:58489588:C:T
Gene:: GAPT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.58489589C>G, NC_000005.10:g.58489589C>T, NC_000005.9:g.57785416C>G, NC_000005.9:g.57785416C>T

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