SNP Links for Gene (Select 729597) - SNP

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Select item 14915319631.

rs1491531963 has merged into rs879993034 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACC [Show Flanks]
Chromosome:: 7:102351925 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:102351925::C,NC_000007.14:102351925::CAC,NC_000007.14:102351925::CACAC,NC_000007.14:102351925::CACACAC,NC_000007.14:102351925::CACACACAC,NC_000007.14:102351925::CACACACACAC,NC_000007.14:102351925::CACC
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.102351925_102351926insC, NC_000007.14:g.102351925_102351926insCAC, NC_000007.14:g.102351925_102351926insCACAC, NC_000007.14:g.102351925_102351926insCACACAC, NC_000007.14:g.102351925_102351926insCACACACAC, NC_000007.14:g.102351925_102351926insCACACACACAC, NC_000007.14:g.102351925_102351926insCACC, NW_003571037.1:g.276255_276256insC, NW_003571037.1:g.276255_276256insCAC, NW_003571037.1:g.276255_276256insCACAC, NW_003571037.1:g.276255_276256insCACACAC, NW_003571037.1:g.276255_276256insCACACACAC, NW_003571037.1:g.276255_276256insCACACACACAC, NW_003571037.1:g.276255_276256insCACC

Select item 14914723612.

rs1491472361 has merged into rs1158044384 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:102351934 (GRCh38)
7:8 (GRCh37)
Canonical SPDI:: NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102351924:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102351934_102351951del, NC_000007.14:g.102351936_102351951del, NC_000007.14:g.102351938_102351951del, NC_000007.14:g.102351947_102351951del, NC_000007.14:g.102351948_102351951del, NC_000007.14:g.102351949_102351951del, NC_000007.14:g.102351950_102351951del, NC_000007.14:g.102351951del, NC_000007.14:g.102351951dup, NC_000007.14:g.102351950_102351951dup, NC_000007.14:g.102351949_102351951dup, NC_000007.14:g.102351948_102351951dup, NC_000007.14:g.102351947_102351951dup, NC_000007.14:g.102351943_102351951dup, NW_003571037.1:g.276264_276281del, NW_003571037.1:g.276266_276281del, NW_003571037.1:g.276268_276281del, NW_003571037.1:g.276277_276281del, NW_003571037.1:g.276278_276281del, NW_003571037.1:g.276279_276281del, NW_003571037.1:g.276280_276281del, NW_003571037.1:g.276281del, NW_003571037.1:g.276281dup, NW_003571037.1:g.276280_276281dup, NW_003571037.1:g.276279_276281dup, NW_003571037.1:g.276278_276281dup, NW_003571037.1:g.276277_276281dup, NW_003571037.1:g.276273_276281dup

Select item 14912038463.

rs1491203846 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:102353637 (GRCh38)
7:101994081 (GRCh37)
Canonical SPDI:: NC_000007.14:102353636:CT:
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.001/92 (GnomAD)
-=0.00312/20 (1000Genomes)
-=0.00552/10 (Korea1K)
-=0.01001/281 (TOMMO)
HGVS:: NC_000007.14:g.102353637_102353638del, NW_003571037.1:g.277967_277968del, NC_000007.13:g.101994097dup, NC_000007.13:g.101994080del

Select item 14909002074.

rs1490900207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102346857 (GRCh38)
7:101987297 (GRCh37)
Canonical SPDI:: NC_000007.14:102346856:C:G
Gene:: SPDYE6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.102346857C>G, NW_003571037.1:g.271187C>G, NC_000007.13:g.101987297C>G, NM_001146210.4:c.*410G>C, NM_001146210.3:c.*410G>C, NM_001146210.2:c.*410G>C, NM_001146210.1:c.*410G>C, XM_047420793.1:c.*1364G>C, XM_047420794.1:c.*1245G>C

Select item 14907831355.

rs1490783135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102345912 (GRCh38)
7:101986352 (GRCh37)
Canonical SPDI:: NC_000007.14:102345911:A:C
Gene:: SPDYE6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102345912A>C, NW_003571037.1:g.270242A>C, NC_000007.13:g.101986352A>C, NM_001146210.4:c.*1355T>G, NM_001146210.3:c.*1355T>G, NM_001146210.2:c.*1355T>G, NM_001146210.1:c.*1355T>G

Select item 14905419786.

rs1490541978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102358356 (GRCh38)
7:101998804 (GRCh37)
Canonical SPDI:: NC_000007.14:102358355:A:G
Gene:: SPDYE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102358356A>G, NW_003571037.1:g.282686A>G, NC_000007.13:g.101998804A>G

Select item 14904110937.

rs1490411093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102346382 (GRCh38)
7:101986822 (GRCh37)
Canonical SPDI:: NC_000007.14:102346381:T:C
Gene:: SPDYE6 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.102346382T>C, NW_003571037.1:g.270712T>C, NC_000007.13:g.101986822T>C, NM_001146210.4:c.*885A>G, NM_001146210.3:c.*885A>G, NM_001146210.2:c.*885A>G, NM_001146210.1:c.*885A>G

Select item 14900513548.

rs1490051354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102358106 (GRCh38)
7:101998551 (GRCh37)
Canonical SPDI:: NC_000007.14:102358105:A:C
Gene:: SPDYE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.102358106A>C, NW_003571037.1:g.282436A>C, NC_000007.13:g.101998551A>C

Select item 14900260859.

rs1490026085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102354612 (GRCh38)
7:101995057 (GRCh37)
Canonical SPDI:: NC_000007.14:102354611:G:A
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00093/11 (ALFA)
A=0.00062/4 (1000Genomes)
A=0.00115/17 (TOMMO)
A=0.00208/5 (KOREAN)
A=0.00368/154 (GnomAD)
HGVS:: NC_000007.14:g.102354612G>A, NW_003571037.1:g.278942G>A, NC_000007.13:g.101995057G>A

Select item 148972281010.

rs1489722810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:102350798 (GRCh38)
7:101991238 (GRCh37)
Canonical SPDI:: NC_000007.14:102350797:C:A
Gene:: SPDYE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000007.14:g.102350798C>A, NW_003571037.1:g.275128C>A, NC_000007.13:g.101991238C>A, NM_001146210.4:c.685G>T, NM_001146210.3:c.685G>T, NM_001146210.2:c.685G>T, NM_001146210.1:c.685G>T, XM_047420793.1:c.685G>T, XM_047420794.1:c.685G>T, NP_001139682.2:p.Val229Phe, XP_047276749.1:p.Val229Phe, XP_047276750.1:p.Val229Phe

Select item 148890589411.

rs1488905894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102353800 (GRCh38)
7:101994241 (GRCh37)
Canonical SPDI:: NC_000007.14:102353799:A:G
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.102353800A>G, NW_003571037.1:g.278130A>G, NC_000007.13:g.101994241A>G

Select item 148870416212.

rs1488704162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102348299 (GRCh38)
7:101988739 (GRCh37)
Canonical SPDI:: NC_000007.14:102348298:T:C
Gene:: SPDYE6 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.102348299T>C, NW_003571037.1:g.272629T>C, NC_000007.13:g.101988739T>C, NM_001146210.4:c.1134A>G, NM_001146210.3:c.1134A>G, NM_001146210.2:c.1134A>G, NM_001146210.1:c.1134A>G, XM_047420793.1:c.1134A>G, XM_047420794.1:c.1134A>G

Select item 148863396213.

rs1488633962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:102347445 (GRCh38)
7:101987885 (GRCh37)
Canonical SPDI:: NC_000007.14:102347444:C:A,NC_000007.14:102347444:C:G
Gene:: SPDYE6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0152/18 (ALFA)
G=0.0144/20 (TOMMO)
HGVS:: NC_000007.14:g.102347445C>A, NC_000007.14:g.102347445C>G, NW_003571037.1:g.271775C>A, NW_003571037.1:g.271775C>G, NC_000007.13:g.101987885G>C, NC_000007.13:g.101987885G>A, XM_047420793.1:c.*776G>T, XM_047420793.1:c.*776G>C, XM_047420794.1:c.*657G>T, XM_047420794.1:c.*657G>C

Select item 148853762314.

rs1488537623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:102349804 (GRCh38)
7:101990245 (GRCh37)
Canonical SPDI:: NC_000007.14:102349803:C:A,NC_000007.14:102349803:C:T
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000007.14:g.102349804C>A, NC_000007.14:g.102349804C>T, NW_003571037.1:g.274134C>A, NW_003571037.1:g.274134C>T, NC_000007.13:g.101990245C>A, NC_000007.13:g.101990245C>T

Select item 148772042115.

rs1487720421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102347239 (GRCh38)
7:101987679 (GRCh37)
Canonical SPDI:: NC_000007.14:102347238:A:G
Gene:: SPDYE6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.102347239A>G, NW_003571037.1:g.271569A>G, NC_000007.13:g.101987679A>G, XM_047420793.1:c.*982T>C, XM_047420794.1:c.*863T>C

Select item 148752539116.

rs1487525391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:102346305 (GRCh38)
7:101986745 (GRCh37)
Canonical SPDI:: NC_000007.14:102346304:C:A
Gene:: SPDYE6 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.102346305C>A, NW_003571037.1:g.270635C>A, NC_000007.13:g.101986745C>A, NM_001146210.4:c.*962G>T, NM_001146210.3:c.*962G>T, NM_001146210.2:c.*962G>T, NM_001146210.1:c.*962G>T

Select item 148712834217.

rs1487128342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:102346285 (GRCh38)
7:101986725 (GRCh37)
Canonical SPDI:: NC_000007.14:102346284:A:G,NC_000007.14:102346284:A:T
Gene:: SPDYE6 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000044/6 (GnomAD)
HGVS:: NC_000007.14:g.102346285A>G, NC_000007.14:g.102346285A>T, NW_003571037.1:g.270615A>G, NW_003571037.1:g.270615A>T, NC_000007.13:g.101986725A>G, NC_000007.13:g.101986725A>T, NM_001146210.4:c.*982T>C, NM_001146210.4:c.*982T>A, NM_001146210.3:c.*982T>C, NM_001146210.3:c.*982T>A, NM_001146210.2:c.*982T>C, NM_001146210.2:c.*982T>A, NM_001146210.1:c.*982T>C, NM_001146210.1:c.*982T>A

Select item 148667156218.

rs1486671562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102357984 (GRCh38)
7:101998429 (GRCh37)
Canonical SPDI:: NC_000007.14:102357983:C:T
Gene:: SPDYE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.102357984C>T, NW_003571037.1:g.282314C>T, NC_000007.13:g.101998429C>T

Select item 148644985119.

rs1486449851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102351928 (GRCh38)
7:101992371 (GRCh37)
Canonical SPDI:: NC_000007.14:102351927:A:C
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02065/245 (ALFA)
C=0.00633/94 (TOMMO)
C=0.00875/15 (Korea1K)
HGVS:: NC_000007.14:g.102351928A>C, NW_003571037.1:g.276258A>C, NC_000007.13:g.101992371A>C

Select item 148641657720.

rs1486416577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102351287 (GRCh38)
7:101991727 (GRCh37)
Canonical SPDI:: NC_000007.14:102351286:G:A
Gene:: SPDYE6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00031/2 (1000Genomes)
HGVS:: NC_000007.14:g.102351287G>A, NW_003571037.1:g.275617G>A, NC_000007.13:g.101991727G>A

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