SNP Links for Gene (Select 4111) - SNP

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Select item 14909933431.

rs1490993343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:152737334 (GRCh38)
X:151899628 (GRCh37)
Canonical SPDI:: NC_000023.11:152737333:G:T
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152737334G>T, NW_003871103.3:g.171317G>T, NG_013228.2:g.1401C>A, NG_015852.2:g.8517G>T, NM_005367.7:c.*228G>T, NM_005367.6:c.*228G>T, NM_005367.5:c.*228G>T, NM_001166387.4:c.*228G>T, NM_001166387.3:c.*228G>T, NM_001166387.2:c.*228G>T, NM_001166387.1:c.*228G>T, NM_001166386.3:c.*228G>T, NM_001166386.2:c.*228G>T, NM_001166386.1:c.*228G>T, NW_025791818.1:g.346274C>A, NC_000023.10:g.151899628C>A

Select item 14907725332.

rs1490772533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:152731922 (GRCh38)
X:151905041 (GRCh37)
Canonical SPDI:: NC_000023.11:152731921:A:G
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152731922A>G, NW_003871103.3:g.165905A>G, NG_013228.2:g.6813T>C, NG_015852.2:g.3105A>G, NW_025791818.1:g.351687T>C, NC_000023.10:g.151905041T>C

Select item 14902834863.

rs1490283486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152732370 (GRCh38)
X:151904593 (GRCh37)
Canonical SPDI:: NC_000023.11:152732369:C:T
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152732370C>T, NW_003871103.3:g.166353C>T, NG_013228.2:g.6365G>A, NG_015852.2:g.3553C>T, NW_025791818.1:g.351239G>A, NC_000023.10:g.151904593G>A

Select item 14902673724.

rs1490267372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:152732303 (GRCh38)
X:151904660 (GRCh37)
Canonical SPDI:: NC_000023.11:152732302:G:T
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152732303G>T, NW_003871103.3:g.166286G>T, NG_013228.2:g.6432C>A, NG_015852.2:g.3486G>T, NW_025791818.1:g.351306C>A, NC_000023.10:g.151904660C>A

Select item 14897419605.

rs1489741960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:152732731 (GRCh38)
X:151904232 (GRCh37)
Canonical SPDI:: NC_000023.11:152732730:A:G,NC_000023.11:152732730:A:T
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.152732731A>G, NC_000023.11:g.152732731A>T, NW_003871103.3:g.166714A>G, NW_003871103.3:g.166714A>T, NG_013228.2:g.6004T>C, NG_013228.2:g.6004T>A, NG_015852.2:g.3914A>G, NG_015852.2:g.3914A>T, NW_025791818.1:g.350878T>C, NW_025791818.1:g.350878T>A, NC_000023.10:g.151904232T>C, NC_000023.10:g.151904232T>A

Select item 14890655536.

rs1489065553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:152735492 (GRCh38)
X:151901470 (GRCh37)
Canonical SPDI:: NC_000023.11:152735491:C:G
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.152735492C>G, NW_003871103.3:g.169475C>G, NG_013228.2:g.3243G>C, NG_015852.2:g.6675C>G, NW_025791818.1:g.348116G>C, NC_000023.10:g.151901470G>C

Select item 14889326257.

rs1488932625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152735812 (GRCh38)
X:151901150 (GRCh37)
Canonical SPDI:: NC_000023.11:152735811:C:T
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152735812C>T, NW_003871103.3:g.169795C>T, NG_013228.2:g.2923G>A, NG_015852.2:g.6995C>T, NW_025791818.1:g.347796G>A, NC_000023.10:g.151901150G>A

Select item 14889217878.

rs1488921787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:152736313 (GRCh38)
X:151900649 (GRCh37)
Canonical SPDI:: NC_000023.11:152736312:G:A,NC_000023.11:152736312:G:C,NC_000023.11:152736312:G:T
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00027/3 (TOMMO)
HGVS:: NC_000023.11:g.152736313G>A, NC_000023.11:g.152736313G>C, NC_000023.11:g.152736313G>T, NW_003871103.3:g.170296G>A, NW_003871103.3:g.170296G>C, NW_003871103.3:g.170296G>T, NG_013228.2:g.2422C>T, NG_013228.2:g.2422C>G, NG_013228.2:g.2422C>A, NG_015852.2:g.7496G>A, NG_015852.2:g.7496G>C, NG_015852.2:g.7496G>T, NM_005367.7:c.152G>A, NM_005367.7:c.152G>C, NM_005367.7:c.152G>T, NM_005367.6:c.152G>A, NM_005367.6:c.152G>C, NM_005367.6:c.152G>T, NM_005367.5:c.152G>A, NM_005367.5:c.152G>C, NM_005367.5:c.152G>T, NM_001166387.4:c.152G>A, NM_001166387.4:c.152G>C, NM_001166387.4:c.152G>T, NM_001166387.3:c.152G>A, NM_001166387.3:c.152G>C, NM_001166387.3:c.152G>T, NM_001166387.2:c.152G>A, NM_001166387.2:c.152G>C, NM_001166387.2:c.152G>T, NM_001166387.1:c.152G>A, NM_001166387.1:c.152G>C, NM_001166387.1:c.152G>T, NM_001166386.3:c.152G>A, NM_001166386.3:c.152G>C, NM_001166386.3:c.152G>T, NM_001166386.2:c.152G>A, NM_001166386.2:c.152G>C, NM_001166386.2:c.152G>T, NM_001166386.1:c.152G>A, NM_001166386.1:c.152G>C, NM_001166386.1:c.152G>T, NW_025791818.1:g.347295C>T, NW_025791818.1:g.347295C>G, NW_025791818.1:g.347295C>A, NC_000023.10:g.151900649C>T, NC_000023.10:g.151900649C>G, NC_000023.10:g.151900649C>A, NP_005358.2:p.Arg51Gln, NP_005358.2:p.Arg51Pro, NP_005358.2:p.Arg51Leu, NP_001159859.1:p.Arg51Gln, NP_001159859.1:p.Arg51Pro, NP_001159859.1:p.Arg51Leu, NP_001159858.1:p.Arg51Gln, NP_001159858.1:p.Arg51Pro, NP_001159858.1:p.Arg51Leu

Select item 14880859959.

rs1488085995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152735883 (GRCh38)
X:151901079 (GRCh37)
Canonical SPDI:: NC_000023.11:152735882:C:T
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152735883C>T, NW_003871103.3:g.169866C>T, NG_013228.2:g.2852G>A, NG_015852.2:g.7066C>T, NW_025791818.1:g.347725G>A, NC_000023.10:g.151901079G>A

Select item 148729101210.

rs1487291012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:152733663 (GRCh38)
X:151903300 (GRCh37)
Canonical SPDI:: NC_000023.11:152733662:C:G
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.152733663C>G, NW_003871103.3:g.167646C>G, NG_013228.2:g.5072G>C, NG_015852.2:g.4846C>G, NW_025791818.1:g.349946G>C, NC_000023.10:g.151903300G>C

Select item 148681205011.

rs1486812050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:152733824 (GRCh38)
X:151903139 (GRCh37)
Canonical SPDI:: NC_000023.11:152733823:G:A
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.152733824G>A, NW_003871103.3:g.167807G>A, NG_013228.2:g.4911C>T, NG_015852.2:g.5007G>A, NM_005367.7:c.-111G>A, NM_005367.6:c.-111G>A, NM_005367.5:c.-111G>A, NM_001166387.4:c.-217G>A, NM_001166387.3:c.-217G>A, NM_001166387.2:c.-217G>A, NM_001166387.1:c.-217G>A, NW_025791818.1:g.349785C>T, NC_000023.10:g.151903139C>T

Select item 148676041512.

rs1486760415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:152734359 (GRCh38)
X:151902603 (GRCh37)
Canonical SPDI:: NC_000023.11:152734358:C:A
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000337/4 (ALFA)
A=0.000164/17 (GnomAD)
HGVS:: NC_000023.11:g.152734359C>A, NW_003871103.3:g.168342C>A, NG_013228.2:g.4376G>T, NG_015852.2:g.5542C>A, NW_025791818.1:g.349249G>T, NC_000023.10:g.151902603G>T

Select item 148591200113.

rs1485912001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:152731941 (GRCh38)
X:151905022 (GRCh37)
Canonical SPDI:: NC_000023.11:152731940:T:C
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.152731941T>C, NW_003871103.3:g.165924T>C, NG_013228.2:g.6794A>G, NG_015852.2:g.3124T>C, NW_025791818.1:g.351668A>G, NC_000023.10:g.151905022A>G

Select item 148572433914.

rs1485724339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:152734234 (GRCh38)
X:151902728 (GRCh37)
Canonical SPDI:: NC_000023.11:152734233:C:G,NC_000023.11:152734233:C:T
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152734234C>G, NC_000023.11:g.152734234C>T, NW_003871103.3:g.168217C>G, NW_003871103.3:g.168217C>T, NG_013228.2:g.4501G>C, NG_013228.2:g.4501G>A, NG_015852.2:g.5417C>G, NG_015852.2:g.5417C>T, NW_025791818.1:g.349374G>C, NW_025791818.1:g.349374G>A, NC_000023.10:g.151902728G>C, NC_000023.10:g.151902728G>A

Select item 148568636415.

rs1485686364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:152735578 (GRCh38)
X:151901384 (GRCh37)
Canonical SPDI:: NC_000023.11:152735577:T:C
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152735578T>C, NW_003871103.3:g.169561T>C, NG_013228.2:g.3157A>G, NG_015852.2:g.6761T>C, NW_025791818.1:g.348030A>G, NC_000023.10:g.151901384A>G

Select item 148567447116.

rs1485674471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:152735011 (GRCh38)
X:151901951 (GRCh37)
Canonical SPDI:: NC_000023.11:152735010:G:A,NC_000023.11:152735010:G:C
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/3 (GnomAD)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.152735011G>A, NC_000023.11:g.152735011G>C, NW_003871103.3:g.168994G>A, NW_003871103.3:g.168994G>C, NG_013228.2:g.3724C>T, NG_013228.2:g.3724C>G, NG_015852.2:g.6194G>A, NG_015852.2:g.6194G>C, NW_025791818.1:g.348597C>T, NW_025791818.1:g.348597C>G, NC_000023.10:g.151901951C>T, NC_000023.10:g.151901951C>G

Select item 148546911117.

rs1485469111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:152737870 (GRCh38)
X:151899092 (GRCh37)
Canonical SPDI:: NC_000023.11:152737869:G:T
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.152737870G>T, NW_003871103.3:g.171853G>T, NG_013228.2:g.865C>A, NG_015852.2:g.9053G>T, NW_025791818.1:g.345738C>A, NC_000023.10:g.151899092C>A

Select item 148479594018.

rs1484795940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:152735097 (GRCh38)
X:151901865 (GRCh37)
Canonical SPDI:: NC_000023.11:152735096:C:T
Gene:: MAGEA12 (Varview), CSAG1 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.152735097C>T, NW_003871103.3:g.169080C>T, NG_013228.2:g.3638G>A, NG_015852.2:g.6280C>T, NW_025791818.1:g.348511G>A, NC_000023.10:g.151901865G>A

Select item 148465141819.

rs1484651418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:152735893 (GRCh38)
X:151901069 (GRCh37)
Canonical SPDI:: NC_000023.11:152735892:A:G
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.152735893A>G, NW_003871103.3:g.169876A>G, NG_013228.2:g.2842T>C, NG_015852.2:g.7076A>G, NW_025791818.1:g.347715T>C, NC_000023.10:g.151901069T>C

Select item 148419164520.

rs1484191645 has merged into rs782369261 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:152735970 (GRCh38)
X:151900989 (GRCh37)
Canonical SPDI:: NC_000023.11:152735969:CCCC:CCC
Gene:: MAGEA12 (Varview), CSAG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000498/7 (ALFA)
-=0.000718/190 (TOPMED)
-=0.000763/80 (GnomAD)
G=0.998146/3768 (1000Genomes)
HGVS:: NC_000023.11:g.152735973del, NW_003871103.3:g.169956del, NG_013228.2:g.2765del, NG_015852.2:g.7156del, NW_025791818.1:g.347638del, NC_000023.10:g.151900992del

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