SNP Links for Gene (Select 219409) - SNP

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Select item 14907623801.

rs1490762380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27794087 (GRCh38)
13:28368224 (GRCh37)
Canonical SPDI:: NC_000013.11:27794086:G:A
Gene:: GSX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.27794087G>A, NC_000013.10:g.28368224G>A, NM_145657.3:c.*139G>A

Select item 14902380272.

rs1490238027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:27793075 (GRCh38)
13:28367212 (GRCh37)
Canonical SPDI:: NC_000013.11:27793074:C:A,NC_000013.11:27793074:C:G
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.27793075C>A, NC_000013.11:g.27793075C>G, NC_000013.10:g.28367212C>A, NC_000013.10:g.28367212C>G, NM_145657.3:c.385C>A, NM_145657.3:c.385C>G, NM_145657.2:c.385C>A, NM_145657.2:c.385C>G, NM_145657.1:c.385C>A, NM_145657.1:c.385C>G, NP_663632.1:p.Pro129Thr, NP_663632.1:p.Pro129Ala

Select item 14902131473.

rs1490213147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27791965 (GRCh38)
13:28366102 (GRCh37)
Canonical SPDI:: NC_000013.11:27791964:T:C
Gene:: GSX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.27791965T>C, NC_000013.10:g.28366102T>C

Select item 14897045664.

rs1489704566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27793808 (GRCh38)
13:28367945 (GRCh37)
Canonical SPDI:: NC_000013.11:27793807:G:A
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27793808G>A, NC_000013.10:g.28367945G>A, NM_145657.3:c.655G>A, NM_145657.2:c.655G>A, NM_145657.1:c.655G>A, NP_663632.1:p.Ala219Thr

Select item 14881591355.

rs1488159135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27794184 (GRCh38)
13:28368321 (GRCh37)
Canonical SPDI:: NC_000013.11:27794183:T:C
Gene:: GSX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27794184T>C, NC_000013.10:g.28368321T>C, NM_145657.3:c.*236T>C

Select item 14881342526.

rs1488134252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27794447 (GRCh38)
13:28368584 (GRCh37)
Canonical SPDI:: NC_000013.11:27794446:A:G
Gene:: GSX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.27794447A>G, NC_000013.10:g.28368584A>G, NM_145657.3:c.*499A>G

Select item 14873162177.

rs1487316217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27792758 (GRCh38)
13:28366895 (GRCh37)
Canonical SPDI:: NC_000013.11:27792757:G:A
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27792758G>A, NC_000013.10:g.28366895G>A, NM_145657.3:c.68G>A, NM_145657.2:c.68G>A, NM_145657.1:c.68G>A, NP_663632.1:p.Gly23Asp

Select item 14866781188.

rs1486678118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27790967 (GRCh38)
13:28365104 (GRCh37)
Canonical SPDI:: NC_000013.11:27790966:C:T
Gene:: GSX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.001711/5 (KOREAN)
T=0.00315/53 (TOMMO)
HGVS:: NC_000013.11:g.27790967C>T, NC_000013.10:g.28365104C>T

Select item 14866691479.

rs1486669147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27791662 (GRCh38)
13:28365799 (GRCh37)
Canonical SPDI:: NC_000013.11:27791661:A:G
Gene:: GSX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.27791662A>G, NC_000013.10:g.28365799A>G

Select item 148407697510.

rs1484076975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27793661 (GRCh38)
13:28367798 (GRCh37)
Canonical SPDI:: NC_000013.11:27793660:A:G
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27793661A>G, NC_000013.10:g.28367798A>G, NM_145657.3:c.508A>G, NM_145657.2:c.508A>G, NM_145657.1:c.508A>G, NP_663632.1:p.Met170Val

Select item 148250054411.

rs1482500544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27791752 (GRCh38)
13:28365889 (GRCh37)
Canonical SPDI:: NC_000013.11:27791751:G:A
Gene:: GSX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.27791752G>A, NC_000013.10:g.28365889G>A

Select item 148164114712.

rs1481641147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27791194 (GRCh38)
13:28365331 (GRCh37)
Canonical SPDI:: NC_000013.11:27791193:C:T
Gene:: GSX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000013.11:g.27791194C>T, NC_000013.10:g.28365331C>T

Select item 148100748613.

rs1481007486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:27792764 (GRCh38)
13:28366901 (GRCh37)
Canonical SPDI:: NC_000013.11:27792763:C:A
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27792764C>A, NC_000013.10:g.28366901C>A, NM_145657.3:c.74C>A, NM_145657.2:c.74C>A, NM_145657.1:c.74C>A, NP_663632.1:p.Pro25Gln

Select item 148059921014.

rs1480599210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:27792822 (GRCh38)
13:28366959 (GRCh37)
Canonical SPDI:: NC_000013.11:27792821:T:A,NC_000013.11:27792821:T:C
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.27792822T>A, NC_000013.11:g.27792822T>C, NC_000013.10:g.28366959T>A, NC_000013.10:g.28366959T>C, NM_145657.3:c.132T>A, NM_145657.3:c.132T>C, NM_145657.2:c.132T>A, NM_145657.2:c.132T>C, NM_145657.1:c.132T>A, NM_145657.1:c.132T>C

Select item 148056836015.

rs1480568360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:27793864 (GRCh38)
13:28368001 (GRCh37)
Canonical SPDI:: NC_000013.11:27793863:C:G
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27793864C>G, NC_000013.10:g.28368001C>G, NM_145657.3:c.711C>G, NM_145657.2:c.711C>G, NM_145657.1:c.711C>G

Select item 148004060516.

rs1480040605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:27794000 (GRCh38)
13:28368137 (GRCh37)
Canonical SPDI:: NC_000013.11:27793999:C:G
Gene:: GSX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27794000C>G, NC_000013.10:g.28368137C>G, NM_145657.3:c.*52C>G

Select item 147958216517.

rs1479582165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27793786 (GRCh38)
13:28367923 (GRCh37)
Canonical SPDI:: NC_000013.11:27793785:T:C
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.27793786T>C, NC_000013.10:g.28367923T>C, NM_145657.3:c.633T>C, NM_145657.2:c.633T>C, NM_145657.1:c.633T>C

Select item 147929907718.

rs1479299077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27792541 (GRCh38)
13:28366678 (GRCh37)
Canonical SPDI:: NC_000013.11:27792540:T:C
Gene:: GSX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.27792541T>C, NC_000013.10:g.28366678T>C, NM_145657.3:c.-150T>C

Select item 147904220919.

rs1479042209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27793741 (GRCh38)
13:28367878 (GRCh37)
Canonical SPDI:: NC_000013.11:27793740:G:A
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27793741G>A, NC_000013.10:g.28367878G>A, NM_145657.3:c.588G>A, NM_145657.2:c.588G>A, NM_145657.1:c.588G>A

Select item 147811020620.

rs1478110206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27793939 (GRCh38)
13:28368076 (GRCh37)
Canonical SPDI:: NC_000013.11:27793938:C:T
Gene:: GSX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27793939C>T, NC_000013.10:g.28368076C>T, NM_145657.3:c.786C>T, NM_145657.2:c.786C>T, NM_145657.1:c.786C>T

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