SNP Links for Gene (Select 728524) - SNP

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Select item 14846274521.

rs1484627452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027642 (GRCh38)
7:72498189 (GRCh37)
Canonical SPDI:: NC_000007.14:73027641:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027642G>A, NW_003871064.1:g.556878G>A, NC_000007.13:g.72498189G>A

Select item 14705886482.

rs1470588648 has merged into rs1176834952 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:73027483 (GRCh38)
7:13 (GRCh37)
Canonical SPDI:: NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:73027468:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027483_73027497del, NC_000007.14:g.73027485_73027497del, NC_000007.14:g.73027486_73027497del, NC_000007.14:g.73027490_73027497del, NC_000007.14:g.73027491_73027497del, NC_000007.14:g.73027496_73027497del, NC_000007.14:g.73027497del, NC_000007.14:g.73027497dup, NW_003871064.1:g.556719_556733del, NW_003871064.1:g.556721_556733del, NW_003871064.1:g.556722_556733del, NW_003871064.1:g.556726_556733del, NW_003871064.1:g.556727_556733del, NW_003871064.1:g.556732_556733del, NW_003871064.1:g.556733del, NW_003871064.1:g.556733dup

Select item 14665766213.

rs1466576621 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:73027468 (GRCh38)
7:72497999 (GRCh37)
Canonical SPDI:: NC_000007.14:73027468:TTTTTT:TTTTTTCTTTTTTTTTTTTTTT
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.73027469_73027474T[6]CTTTTTTTTTTTTTTT[1], NW_003871064.1:g.556705_556710T[6]CTTTTTTTTTTTTTTT[1], NC_000007.13:g.72497999_72498004T[6]CTTTTTTTTTTTTTTT[1]

Select item 14557548974.

rs1455754897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:73027464 (GRCh38)
7:72497994 (GRCh37)
Canonical SPDI:: NC_000007.14:73027463:C:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.73027464C>A, NW_003871064.1:g.556700C>A, NC_000007.13:g.72497994C>A

Select item 14409233405.

rs1440923340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73027308 (GRCh38)
7:72497838 (GRCh37)
Canonical SPDI:: NC_000007.14:73027307:T:C
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.73027308T>C, NW_003871064.1:g.556544T>C, NC_000007.13:g.72497838T>C

Select item 14371725096.

rs1437172509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027053 (GRCh38)
7:72497583 (GRCh37)
Canonical SPDI:: NC_000007.14:73027052:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.73027053G>A, NW_003871064.1:g.556289G>A, NC_000007.13:g.72497583G>A

Select item 14134939637.

rs1413493963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73027896 (GRCh38)
7:72498443 (GRCh37)
Canonical SPDI:: NC_000007.14:73027895:C:T
Gene:: SPDYE8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.02639/313 (ALFA)
HGVS:: NC_000007.14:g.73027896C>T, NW_003871064.1:g.557132C>T, NC_000007.13:g.72498443C>T, NM_001382525.2:c.71G>A, NM_001382525.1:c.71G>A, NM_001351349.2:c.71G>A, NM_001351349.3:c.71G>A, NM_001351349.1:c.71G>A, NR_003664.2:n.642G>A, NM_001382554.2:c.71G>A, NM_001382554.3:c.71G>A, NM_001382554.1:c.71G>A, NM_001032389.2:c.71G>A, NM_001032389.1:c.71G>A, NM_001351351.1:c.71G>A, NM_001351351.3:c.71G>A, NM_001351351.2:c.71G>A, NP_001369454.1:p.Arg24Gln

Select item 14132295458.

rs1413229545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:73027412 (GRCh38)
7:72497942 (GRCh37)
Canonical SPDI:: NC_000007.14:73027411:T:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00253/30 (ALFA)
HGVS:: NC_000007.14:g.73027412T>A, NW_003871064.1:g.556648T>A, NC_000007.13:g.72497942T>A

Select item 13786305979.

rs1378630597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73027468 (GRCh38)
7:72497998 (GRCh37)
Canonical SPDI:: NC_000007.14:73027467:C:A,NC_000007.14:73027467:C:T
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00995/118 (ALFA)
A=0.00038/1 (TOMMO)
HGVS:: NC_000007.14:g.73027468C>A, NC_000007.14:g.73027468C>T, NW_003871064.1:g.556704C>A, NW_003871064.1:g.556704C>T, NC_000007.13:g.72497998C>A, NC_000007.13:g.72497998C>T

Select item 137524863610.

rs1375248636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:73027431 (GRCh38)
7:72497961 (GRCh37)
Canonical SPDI:: NC_000007.14:73027430:A:C
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.08464/1004 (ALFA)
HGVS:: NC_000007.14:g.73027431A>C, NW_003871064.1:g.556667A>C, NC_000007.13:g.72497961A>C

Select item 137347976011.

rs1373479760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027773 (GRCh38)
7:72498320 (GRCh37)
Canonical SPDI:: NC_000007.14:73027772:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0027/32 (ALFA)
HGVS:: NC_000007.14:g.73027773G>A, NW_003871064.1:g.557009G>A, NC_000007.13:g.72498320G>A

Select item 137266429212.

rs1372664292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73027229 (GRCh38)
7:72497759 (GRCh37)
Canonical SPDI:: NC_000007.14:73027228:C:G
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00202/24 (ALFA)
HGVS:: NC_000007.14:g.73027229C>G, NW_003871064.1:g.556465C>G, NC_000007.13:g.72497759C>G

Select item 135459798713.

rs1354597987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027312 (GRCh38)
7:72497842 (GRCh37)
Canonical SPDI:: NC_000007.14:73027311:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027312G>A, NW_003871064.1:g.556548G>A, NC_000007.13:g.72497842G>A

Select item 134977487014.

rs1349774870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027751 (GRCh38)
7:72498298 (GRCh37)
Canonical SPDI:: NC_000007.14:73027750:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01104/131 (ALFA)
A=0.01752/15 (TOMMO)
A=0.03571/5 (Korea1K)
HGVS:: NC_000007.14:g.73027751G>A, NW_003871064.1:g.556987G>A, NC_000007.13:g.72498298G>A

Select item 134553343815.

rs1345533438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73027124 (GRCh38)
7:72497654 (GRCh37)
Canonical SPDI:: NC_000007.14:73027123:C:A,NC_000007.14:73027123:C:T
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.06896/818 (ALFA)
HGVS:: NC_000007.14:g.73027124C>A, NC_000007.14:g.73027124C>T, NW_003871064.1:g.556360C>A, NW_003871064.1:g.556360C>T, NC_000007.13:g.72497654C>A, NC_000007.13:g.72497654C>T

Select item 133151972716.

rs1331519727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027404 (GRCh38)
7:72497934 (GRCh37)
Canonical SPDI:: NC_000007.14:73027403:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027404G>A, NW_003871064.1:g.556640G>A, NC_000007.13:g.72497934G>A

Select item 130449001017.

rs1304490010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73027758 (GRCh38)
7:72498305 (GRCh37)
Canonical SPDI:: NC_000007.14:73027757:G:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027758G>A, NW_003871064.1:g.556994G>A, NC_000007.13:g.72498305G>A

Select item 130237585518.

rs1302375855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:73027138 (GRCh38)
7:72497668 (GRCh37)
Canonical SPDI:: NC_000007.14:73027137:G:T
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.07031/834 (ALFA)
HGVS:: NC_000007.14:g.73027138G>T, NW_003871064.1:g.556374G>T, NC_000007.13:g.72497668G>T

Select item 128074391919.

rs1280743919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73027870 (GRCh38)
7:72498417 (GRCh37)
Canonical SPDI:: NC_000007.14:73027869:C:G
Gene:: SPDYE8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.73027870C>G, NW_003871064.1:g.557106C>G, NC_000007.13:g.72498417C>G, NM_001382525.2:c.97G>C, NM_001382525.1:c.97G>C, NM_001351349.2:c.97G>C, NM_001351349.3:c.97G>C, NM_001351349.1:c.97G>C, NR_003664.2:n.668G>C, NM_001382554.2:c.97G>C, NM_001382554.3:c.97G>C, NM_001382554.1:c.97G>C, NM_001032389.2:c.97G>C, NM_001032389.1:c.97G>C, NM_001351351.1:c.97G>C, NM_001351351.3:c.97G>C, NM_001351351.2:c.97G>C, NP_001369454.1:p.Glu33Gln

Select item 127937275120.

rs1279372751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:73027682 (GRCh38)
7:72498229 (GRCh37)
Canonical SPDI:: NC_000007.14:73027681:T:A
Gene:: SPDYE8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.73027682T>A, NW_003871064.1:g.556918T>A, NC_000007.13:g.72498229T>A

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