SNP Links for Gene (Select 81833) - SNP

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Items: 1 to 20 of 4830

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Select item 14915382911.

rs1491538291 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:88045446 (GRCh38)
6:88755164 (GRCh37)
Canonical SPDI:: NC_000006.12:88045445:AT:
Gene:: SPACA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000061/1 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.88045446_88045447del, NC_000006.11:g.88755164_88755165del

Select item 14909793112.

rs1490979311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:88066990 (GRCh38)
6:88776708 (GRCh37)
Canonical SPDI:: NC_000006.12:88066989:A:G,NC_000006.12:88066989:A:T
Gene:: SPACA1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.001345/23 (TOMMO)
G=0.001638/3 (Korea1K)
G=0.002053/6 (KOREAN)
HGVS:: NC_000006.12:g.88066990A>G, NC_000006.12:g.88066990A>T, NC_000006.11:g.88776708A>G, NC_000006.11:g.88776708A>T

Select item 14909540263.

rs1490954026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:88065741 (GRCh38)
6:88775460 (GRCh37)
Canonical SPDI:: NC_000006.12:88065741:TTTTTTTT:TTTTTTTTT
Gene:: SPACA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.88065749dup, NC_000006.11:g.88775467dup

Select item 14908932654.

rs1490893265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:88047621 (GRCh38)
6:88757339 (GRCh37)
Canonical SPDI:: NC_000006.12:88047620:G:A,NC_000006.12:88047620:G:C
Gene:: SPACA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88047621G>A, NC_000006.12:g.88047621G>C, NC_000006.11:g.88757339G>A, NC_000006.11:g.88757339G>C

Select item 14908775555.

rs1490877555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:88045065 (GRCh38)
6:88754783 (GRCh37)
Canonical SPDI:: NC_000006.12:88045064:T:C
Gene:: SPACA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88045065T>C, NC_000006.11:g.88754783T>C

Select item 14908460176.

rs1490846017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:88064262 (GRCh38)
6:88773980 (GRCh37)
Canonical SPDI:: NC_000006.12:88064261:C:T
Gene:: SPACA1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.88064262C>T, NC_000006.11:g.88773980C>T

Select item 14908397237.

rs1490839723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:88064008 (GRCh38)
6:88773726 (GRCh37)
Canonical SPDI:: NC_000006.12:88064007:A:C
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88064008A>C, NC_000006.11:g.88773726A>C

Select item 14907267958.

rs1490726795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:88058179 (GRCh38)
6:88767897 (GRCh37)
Canonical SPDI:: NC_000006.12:88058178:G:A,NC_000006.12:88058178:G:T
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.88058179G>A, NC_000006.12:g.88058179G>T, NC_000006.11:g.88767897G>A, NC_000006.11:g.88767897G>T

Select item 14904453559.

rs1490445355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:88049118 (GRCh38)
6:88758837 (GRCh37)
Canonical SPDI:: NC_000006.12:88049118:T:TT
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.88049119dup, NC_000006.11:g.88758837dup

Select item 149028443510.

rs1490284435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:88062826 (GRCh38)
6:88772544 (GRCh37)
Canonical SPDI:: NC_000006.12:88062825:A:G
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.88062826A>G, NC_000006.11:g.88772544A>G

Select item 149028353511.

rs1490283535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:88048566 (GRCh38)
6:88758284 (GRCh37)
Canonical SPDI:: NC_000006.12:88048565:C:G
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88048566C>G, NC_000006.11:g.88758284C>G

Select item 149025684212.

rs1490256842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:88049755 (GRCh38)
6:88759473 (GRCh37)
Canonical SPDI:: NC_000006.12:88049754:T:A,NC_000006.12:88049754:T:C
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.88049755T>A, NC_000006.12:g.88049755T>C, NC_000006.11:g.88759473T>A, NC_000006.11:g.88759473T>C

Select item 149021030413.

rs1490210304 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:88057805 (GRCh38)
6:88767523 (GRCh37)
Canonical SPDI:: NC_000006.12:88057804:GG:G
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.88057806del, NC_000006.11:g.88767524del

Select item 149018492714.

rs1490184927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:88056614 (GRCh38)
6:88766332 (GRCh37)
Canonical SPDI:: NC_000006.12:88056613:A:G
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.88056614A>G, NC_000006.11:g.88766332A>G

Select item 148991865815.

rs1489918658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:88047916 (GRCh38)
6:88757634 (GRCh37)
Canonical SPDI:: NC_000006.12:88047915:G:A
Gene:: SPACA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.88047916G>A, NC_000006.11:g.88757634G>A, NM_030960.3:c.11G>A, NM_030960.2:c.11G>A, XM_047419385.1:c.11G>A, NP_112222.1:p.Arg4Lys, XP_047275341.1:p.Arg4Lys

Select item 148983669316.

rs1489836693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:88066332 (GRCh38)
6:88776050 (GRCh37)
Canonical SPDI:: NC_000006.12:88066331:A:C
Gene:: SPACA1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.88066332A>C, NC_000006.11:g.88776050A>C, XM_011536160.3:c.636A>C, XM_011536160.2:c.636A>C, XM_011536160.1:c.636A>C, NM_030960.3:c.882A>C, NM_030960.2:c.882A>C, XM_017011335.2:c.636A>C, XM_017011335.1:c.636A>C, XP_011534462.1:p.Glu212Asp, NP_112222.1:p.Glu294Asp, XP_016866824.1:p.Glu212Asp

Select item 148978116717.

rs1489781167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:88052429 (GRCh38)
6:88762147 (GRCh37)
Canonical SPDI:: NC_000006.12:88052428:C:T
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88052429C>T, NC_000006.11:g.88762147C>T

Select item 148970442618.

rs1489704426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:88046589 (GRCh38)
6:88756307 (GRCh37)
Canonical SPDI:: NC_000006.12:88046588:A:G
Gene:: SPACA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.88046589A>G, NC_000006.11:g.88756307A>G

Select item 148964289419.

rs1489642894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:88064898 (GRCh38)
6:88774616 (GRCh37)
Canonical SPDI:: NC_000006.12:88064897:A:G
Gene:: SPACA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.88064898A>G, NC_000006.11:g.88774616A>G

Select item 148907950320.

rs1489079503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:88049233 (GRCh38)
6:88758951 (GRCh37)
Canonical SPDI:: NC_000006.12:88049232:G:A
Gene:: SPACA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.88049233G>A, NC_000006.11:g.88758951G>A

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