SNP Links for Gene (Select 9552) - SNP

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Items: 1 to 20 of 3239

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Select item 14912715861.

rs1491271586 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:4961764 (GRCh38)
17:4865059 (GRCh37)
Canonical SPDI:: NC_000017.11:4961763:CA:
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000017.11:g.4961764_4961765del, NC_000017.10:g.4865059_4865060del

Select item 14911545002.

rs1491154500 has merged into rs3064917 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:4959351 (GRCh38)
17:4862646 (GRCh37)
Canonical SPDI:: NC_000017.11:4959350:AT:
Gene:: SPAG7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.051065/834 (ALFA)
-=0.030918/198 (1000Genomes)
-=0.041309/10934 (TOPMED)
-=0.044586/6250 (GnomAD)
-=0.04512/756 (TOMMO)
-=0.05/2 (GENOME_DK)
-=0.057343/221 (ALSPAC)
-=0.06014/223 (TWINSUK)
-=0.06317/283 (Estonian)
-=0.071142/71 (GoNL)
-=0.075/45 (NorthernSweden)
HGVS:: NC_000017.11:g.4959351_4959352del, NC_000017.10:g.4862646_4862647del, NG_012063.2:g.18261_18262del, NM_004890.3:c.*182_*183del, NM_004890.2:c.*182_*183del

Select item 14907218663.

rs1490721866 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:4969433 (GRCh38)
17:4872728 (GRCh37)
Canonical SPDI:: NC_000017.11:4969431:TGT:T
Gene:: SPAG7 (Varview), CAMTA2 (Varview), MIR6864 (Varview), LOC124900387 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000017.11:g.4969433_4969434del, NC_000017.10:g.4872728_4872729del

Select item 14905065864.

rs1490506586 [Homo sapiens]

Variant type:: DEL
Alleles:: CGG>- [Show Flanks]
Chromosome:: 17:4968865 (GRCh38)
17:4872160 (GRCh37)
Canonical SPDI:: NC_000017.11:4968864:CGG:
Gene:: SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4968865_4968867del, NC_000017.10:g.4872160_4872162del

Select item 14901506145.

rs1490150614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4961655 (GRCh38)
17:4864950 (GRCh37)
Canonical SPDI:: NC_000017.11:4961654:C:T
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.4961655C>T, NC_000017.10:g.4864950C>T

Select item 14901479716.

rs1490147971 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:4961635 (GRCh38)
17:4864931 (GRCh37)
Canonical SPDI:: NC_000017.11:4961635::C
Gene:: SPAG7 (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_000017.11:g.4961635_4961636insC, NC_000017.10:g.4864930_4864931insC

Select item 14900965277.

rs1490096527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4962539 (GRCh38)
17:4865834 (GRCh37)
Canonical SPDI:: NC_000017.11:4962538:C:T
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4962539C>T, NC_000017.10:g.4865834C>T

Select item 14899774438.

rs1489977443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4958962 (GRCh38)
17:4862257 (GRCh37)
Canonical SPDI:: NC_000017.11:4958961:A:G
Gene:: SPAG7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.4958962A>G, NC_000017.10:g.4862257A>G, NG_012063.2:g.17872A>G

Select item 14897334629.

rs1489733462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4967686 (GRCh38)
17:4870981 (GRCh37)
Canonical SPDI:: NC_000017.11:4967685:C:G
Gene:: SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4967686C>G, NC_000017.10:g.4870981C>G, XR_007065587.1:n.28G>C

Select item 148953053810.

rs1489530538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4961752 (GRCh38)
17:4865047 (GRCh37)
Canonical SPDI:: NC_000017.11:4961751:A:G
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.4961752A>G, NC_000017.10:g.4865047A>G

Select item 148952281711.

rs1489522817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4962484 (GRCh38)
17:4865779 (GRCh37)
Canonical SPDI:: NC_000017.11:4962483:T:C
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4962484T>C, NC_000017.10:g.4865779T>C

Select item 148950388612.

rs1489503886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4960923 (GRCh38)
17:4864218 (GRCh37)
Canonical SPDI:: NC_000017.11:4960922:A:G
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4960923A>G, NC_000017.10:g.4864218A>G, NG_012063.2:g.19833A>G

Select item 148950027613.

rs1489500276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4963703 (GRCh38)
17:4866998 (GRCh37)
Canonical SPDI:: NC_000017.11:4963702:T:C
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000122/2 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.4963703T>C, NC_000017.10:g.4866998T>C

Select item 148945451814.

rs1489454518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4964606 (GRCh38)
17:4867901 (GRCh37)
Canonical SPDI:: NC_000017.11:4964605:C:T
Gene:: SPAG7 (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_000017.11:g.4964606C>T, NC_000017.10:g.4867901C>T

Select item 148871898015.

rs1488718980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4965217 (GRCh38)
17:4868512 (GRCh37)
Canonical SPDI:: NC_000017.11:4965216:T:C
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4965217T>C, NC_000017.10:g.4868512T>C

Select item 148857593616.

rs1488575936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4964301 (GRCh38)
17:4867596 (GRCh37)
Canonical SPDI:: NC_000017.11:4964300:C:T
Gene:: SPAG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.002055/6 (KOREAN)
HGVS:: NC_000017.11:g.4964301C>T, NC_000017.10:g.4867596C>T

Select item 148855813417.

rs1488558134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4959531 (GRCh38)
17:4862826 (GRCh37)
Canonical SPDI:: NC_000017.11:4959530:C:T
Gene:: SPAG7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.4959531C>T, NC_000017.10:g.4862826C>T, NG_012063.2:g.18441C>T, NM_004890.3:c.*3G>A, NM_004890.2:c.*3G>A

Select item 148836179718.

rs1488361797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4968863 (GRCh38)
17:4872158 (GRCh37)
Canonical SPDI:: NC_000017.11:4968862:G:A,NC_000017.11:4968862:G:C
Gene:: SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.4968863G>A, NC_000017.11:g.4968863G>C, NC_000017.10:g.4872158G>A, NC_000017.10:g.4872158G>C

Select item 148833166719.

rs1488331667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4969776 (GRCh38)
17:4873071 (GRCh37)
Canonical SPDI:: NC_000017.11:4969775:G:A,NC_000017.11:4969775:G:C
Gene:: SPAG7 (Varview), CAMTA2 (Varview), MIR6864 (Varview), MIR6865 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.4969776G>A, NC_000017.11:g.4969776G>C, NC_000017.10:g.4873071G>A, NC_000017.10:g.4873071G>C

Select item 148811376620.

rs1488113766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4963722 (GRCh38)
17:4867017 (GRCh37)
Canonical SPDI:: NC_000017.11:4963721:G:A
Gene:: SPAG7 (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)
HGVS:: NC_000017.11:g.4963722G>A, NC_000017.10:g.4867017G>A

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