SNP Links for Gene (Select 6432) - SNP

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Select item 14914941971.

rs1491494197 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14913035402.

rs1491303540 has merged into rs5830541 [Homo sapiens]

Variant type:: SNV:
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14908755933.

rs1490875593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:38750624 (GRCh38)
2:38977766 (GRCh37)
Canonical SPDI:: NC_000002.12:38750623:G:A,NC_000002.12:38750623:G:T
Gene:: SRSF7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38750624G>A, NC_000002.12:g.38750624G>T, NC_000002.11:g.38977766G>A, NC_000002.11:g.38977766G>T

Select item 14903958864.

rs1490395886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:38748022 (GRCh38)
2:38975164 (GRCh37)
Canonical SPDI:: NC_000002.12:38748021:A:C,NC_000002.12:38748021:A:G
Gene:: SRSF7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.38748022A>C, NC_000002.12:g.38748022A>G, NC_000002.11:g.38975164A>C, NC_000002.11:g.38975164A>G

Select item 14901649725.

rs1490164972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:38747187 (GRCh38)
2:38974329 (GRCh37)
Canonical SPDI:: NC_000002.12:38747186:G:C,NC_000002.12:38747186:G:T
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.38747187G>C, NC_000002.12:g.38747187G>T, NC_000002.11:g.38974329G>C, NC_000002.11:g.38974329G>T

Select item 14895036906.

rs1489503690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38751743 (GRCh38)
2:38978885 (GRCh37)
Canonical SPDI:: NC_000002.12:38751742:G:A,NC_000002.12:38751742:G:C
Gene:: SRSF7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00016/3 (ALFA)
A=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.38751743G>A, NC_000002.12:g.38751743G>C, NC_000002.11:g.38978885G>A, NC_000002.11:g.38978885G>C

Select item 14893808677.

rs1489380867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:38747263 (GRCh38)
2:38974405 (GRCh37)
Canonical SPDI:: NC_000002.12:38747262:T:C
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.38747263T>C, NC_000002.11:g.38974405T>C

Select item 14893782568.

rs1489378256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38750239 (GRCh38)
2:38977381 (GRCh37)
Canonical SPDI:: NC_000002.12:38750238:G:A
Gene:: SRSF7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38750239G>A, NC_000002.11:g.38977381G>A

Select item 14889793059.

rs1488979305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:38747893 (GRCh38)
2:38975035 (GRCh37)
Canonical SPDI:: NC_000002.12:38747892:A:C
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.38747893A>C, NC_000002.11:g.38975035A>C

Select item 148888466210.

rs1488884662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:38747693 (GRCh38)
2:38974835 (GRCh37)
Canonical SPDI:: NC_000002.12:38747692:T:G
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.38747693T>G, NC_000002.11:g.38974835T>G

Select item 148874946111.

rs1488749461 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148868203012.

rs1488682030 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148866379613.

rs1488663796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:38751713 (GRCh38)
2:38978855 (GRCh37)
Canonical SPDI:: NC_000002.12:38751712:G:C
Gene:: SRSF7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.38751713G>C, NC_000002.11:g.38978855G>C

Select item 148865803014.

rs1488658030 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148862369415.

rs1488623694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:38751449 (GRCh38)
2:38978591 (GRCh37)
Canonical SPDI:: NC_000002.12:38751448:T:G
Gene:: SRSF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.38751449T>G, NC_000002.11:g.38978591T>G, XM_005264485.3:c.-193A>C, NM_001031684.2:c.-193A>C, NM_001363802.1:c.-193A>C, NM_001195446.1:c.-193A>C, XR_007079572.1:n.46A>C, XR_007079573.1:n.46A>C

Select item 148857005016.

rs1488570050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:38746474 (GRCh38)
2:38973616 (GRCh37)
Canonical SPDI:: NC_000002.12:38746473:T:C
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.38746474T>C, NC_000002.11:g.38973616T>C

Select item 148841053217.

rs1488410532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:38753048 (GRCh38)
2:38980190 (GRCh37)
Canonical SPDI:: NC_000002.12:38753047:A:G
Gene:: SRSF7 (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_000002.12:g.38753048A>G, NC_000002.11:g.38980190A>G

Select item 148809993718.

rs1488099937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38745649 (GRCh38)
2:38972791 (GRCh37)
Canonical SPDI:: NC_000002.12:38745648:C:T
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38745649C>T, NC_000002.11:g.38972791C>T

Select item 148794186519.

rs1487941865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38745760 (GRCh38)
2:38972902 (GRCh37)
Canonical SPDI:: NC_000002.12:38745759:G:A
Gene:: SRSF7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.38745760G>A, NC_000002.11:g.38972902G>A

Select item 148787354120.

rs1487873541 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

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