SNP Links for Gene (Select 389763) - SNP

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Select item 14908099821.

rs1490809982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:81986800 (GRCh38)
9:84601715 (GRCh37)
Canonical SPDI:: NC_000009.12:81986799:G:A,NC_000009.12:81986799:G:C
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.81986800G>A, NC_000009.12:g.81986800G>C, NC_000009.11:g.84601715G>A, NC_000009.11:g.84601715G>C

Select item 14907571292.

rs1490757129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:81991503 (GRCh38)
9:84606418 (GRCh37)
Canonical SPDI:: NC_000009.12:81991502:G:A
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81991503G>A, NC_000009.11:g.84606418G>A, NM_001001670.3:c.1033G>A, NM_001001670.2:c.1033G>A, XM_017014710.3:c.922G>A, XM_017014710.2:c.922G>A, XM_017014710.1:c.922G>A, NP_001001670.1:p.Gly345Ser, XP_016870199.1:p.Gly308Ser

Select item 14906437453.

rs1490643745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:81986333 (GRCh38)
9:84601248 (GRCh37)
Canonical SPDI:: NC_000009.12:81986332:A:C,NC_000009.12:81986332:A:G
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.81986333A>C, NC_000009.12:g.81986333A>G, NC_000009.11:g.84601248A>C, NC_000009.11:g.84601248A>G

Select item 14906220224.

rs1490622022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81989944 (GRCh38)
9:84604859 (GRCh37)
Canonical SPDI:: NC_000009.12:81989943:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.81989944C>T, NC_000009.11:g.84604859C>T

Select item 14903017645.

rs1490301764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:81994249 (GRCh38)
9:84609164 (GRCh37)
Canonical SPDI:: NC_000009.12:81994248:A:G
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.81994249A>G, NC_000009.11:g.84609164A>G, NM_001001670.3:c.3779A>G, NM_001001670.2:c.3779A>G, XM_017014710.3:c.3668A>G, XM_017014710.2:c.3668A>G, XM_017014710.1:c.3668A>G, NP_001001670.1:p.Glu1260Gly, XP_016870199.1:p.Glu1223Gly

Select item 14890078586.

rs1489007858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:81988191 (GRCh38)
9:84603106 (GRCh37)
Canonical SPDI:: NC_000009.12:81988190:T:A
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.81988191T>A, NC_000009.11:g.84603106T>A

Select item 14888814597.

rs1488881459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:81990369 (GRCh38)
9:84605284 (GRCh37)
Canonical SPDI:: NC_000009.12:81990368:G:A,NC_000009.12:81990368:G:C
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81990369G>A, NC_000009.12:g.81990369G>C, NC_000009.11:g.84605284G>A, NC_000009.11:g.84605284G>C

Select item 14888714678.

rs1488871467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:81990753 (GRCh38)
9:84605668 (GRCh37)
Canonical SPDI:: NC_000009.12:81990752:T:A
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.81990753T>A, NC_000009.11:g.84605668T>A

Select item 14882245919.

rs1488224591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:81993189 (GRCh38)
9:84608104 (GRCh37)
Canonical SPDI:: NC_000009.12:81993188:A:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81993189A>T, NC_000009.11:g.84608104A>T, NM_001001670.3:c.2719A>T, NM_001001670.2:c.2719A>T, XM_017014710.3:c.2608A>T, XM_017014710.2:c.2608A>T, XM_017014710.1:c.2608A>T, NP_001001670.1:p.Ile907Phe, XP_016870199.1:p.Ile870Phe

Select item 148752559710.

rs1487525597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:81990610 (GRCh38)
9:84605525 (GRCh37)
Canonical SPDI:: NC_000009.12:81990609:G:A
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.81990610G>A, NC_000009.11:g.84605525G>A

Select item 148722746811.

rs1487227468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81988896 (GRCh38)
9:84603811 (GRCh37)
Canonical SPDI:: NC_000009.12:81988895:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81988896C>T, NC_000009.11:g.84603811C>T, NM_001001670.3:c.78C>T, NM_001001670.2:c.78C>T

Select item 148716257712.

rs1487162577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:81986471 (GRCh38)
9:84601386 (GRCh37)
Canonical SPDI:: NC_000009.12:81986470:T:A,NC_000009.12:81986470:T:G
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.81986471T>A, NC_000009.12:g.81986471T>G, NC_000009.11:g.84601386T>A, NC_000009.11:g.84601386T>G

Select item 148704653013.

rs1487046530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81987371 (GRCh38)
9:84602286 (GRCh37)
Canonical SPDI:: NC_000009.12:81987370:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.81987371C>T, NC_000009.11:g.84602286C>T

Select item 148694439614.

rs1486944396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:81989653 (GRCh38)
9:84604568 (GRCh37)
Canonical SPDI:: NC_000009.12:81989652:T:C
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.81989653T>C, NC_000009.11:g.84604568T>C

Select item 148691891415.

rs1486918914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:81989972 (GRCh38)
9:84604887 (GRCh37)
Canonical SPDI:: NC_000009.12:81989971:T:A
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.81989972T>A, NC_000009.11:g.84604887T>A

Select item 148597955816.

rs1485979558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:81991569 (GRCh38)
9:84606484 (GRCh37)
Canonical SPDI:: NC_000009.12:81991568:T:A,NC_000009.12:81991568:T:C
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81991569T>A, NC_000009.12:g.81991569T>C, NC_000009.11:g.84606484T>A, NC_000009.11:g.84606484T>C, NM_001001670.3:c.1099T>A, NM_001001670.3:c.1099T>C, NM_001001670.2:c.1099T>A, NM_001001670.2:c.1099T>C, XM_017014710.3:c.988T>A, XM_017014710.3:c.988T>C, XM_017014710.2:c.988T>A, XM_017014710.2:c.988T>C, XM_017014710.1:c.988T>A, XM_017014710.1:c.988T>C, NP_001001670.1:p.Phe367Ile, NP_001001670.1:p.Phe367Leu, XP_016870199.1:p.Phe330Ile, XP_016870199.1:p.Phe330Leu

Select item 148563090017.

rs1485630900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:81986989 (GRCh38)
9:84601904 (GRCh37)
Canonical SPDI:: NC_000009.12:81986988:C:A,NC_000009.12:81986988:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000072/10 (GnomAD)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000009.12:g.81986989C>A, NC_000009.12:g.81986989C>T, NC_000009.11:g.84601904C>A, NC_000009.11:g.84601904C>T

Select item 148530934218.

rs1485309342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81989289 (GRCh38)
9:84604204 (GRCh37)
Canonical SPDI:: NC_000009.12:81989288:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000009.12:g.81989289C>T, NC_000009.11:g.84604204C>T

Select item 148521683319.

rs1485216833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:81985468 (GRCh38)
9:84600383 (GRCh37)
Canonical SPDI:: NC_000009.12:81985467:A:G
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.81985468A>G, NC_000009.11:g.84600383A>G

Select item 148515012520.

rs1485150125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81995046 (GRCh38)
9:84609961 (GRCh37)
Canonical SPDI:: NC_000009.12:81995045:C:T
Gene:: SPATA31D1 (Varview), LOC105376107 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000009.12:g.81995046C>T, NC_000009.11:g.84609961C>T, NM_001001670.3:c.4576C>T, NM_001001670.2:c.4576C>T, XM_017014710.3:c.4465C>T, XM_017014710.2:c.4465C>T, XM_017014710.1:c.4465C>T, NP_001001670.1:p.His1526Tyr, XP_016870199.1:p.His1489Tyr

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