SNP Links for Gene (Select 9592) - SNP

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Select item 14913907971.

rs1491390797 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:13151133 (GRCh38)
19:13261947 (GRCh37)
Canonical SPDI:: NC_000019.10:13151132:AG:
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13151133_13151134del, NC_000019.9:g.13261947_13261948del

Select item 14913171502.

rs1491317150 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:13150199 (GRCh38)
19:13261013 (GRCh37)
Canonical SPDI:: NC_000019.10:13150198:AC:
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (ExAC)
-=0.000012/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13150199_13150200del, NC_000019.9:g.13261013_13261014del, NM_003765.3:c.-27_-26del, NM_003765.2:c.-27_-26del, XM_011528397.3:c.-27_-26del, XM_011528397.2:c.-27_-26del, XM_011528397.1:c.-27_-26del, NM_001271610.2:c.-27_-26del, NM_001271610.1:c.-27_-26del, NM_001271609.2:c.-27_-26del, NM_001271609.1:c.-27_-26del, NM_001271611.2:c.-27_-26del, NM_001271611.1:c.-27_-26del

Select item 14913108303.

rs1491310830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 19:13151133 (GRCh38)
19:13261948 (GRCh37)
Canonical SPDI:: NC_000019.10:13151133:GGGGG:GGGGGGG
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
GG=0.000008/2 (TOPMED)
GG=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13151137_13151138dup, NC_000019.9:g.13261951_13261952dup

Select item 14908730924.

rs1490873092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13153139 (GRCh38)
19:13263953 (GRCh37)
Canonical SPDI:: NC_000019.10:13153138:T:A
Gene:: IER2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.13153139T>A, NC_000019.9:g.13263953T>A, NM_004907.3:c.-48T>A, NM_004907.2:c.-48T>A

Select item 14897304635.

rs1489730463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:13152143 (GRCh38)
19:13262957 (GRCh37)
Canonical SPDI:: NC_000019.10:13152142:G:A,NC_000019.10:13152142:G:T
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13152143G>A, NC_000019.10:g.13152143G>T, NC_000019.9:g.13262957G>A, NC_000019.9:g.13262957G>T

Select item 14891638826.

rs1489163882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13150542 (GRCh38)
19:13261356 (GRCh37)
Canonical SPDI:: NC_000019.10:13150541:G:A,NC_000019.10:13150541:G:C
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13150542G>A, NC_000019.10:g.13150542G>C, NC_000019.9:g.13261356G>A, NC_000019.9:g.13261356G>C, NM_004907.3:c.-254G>A, NM_004907.3:c.-254G>C, NM_004907.2:c.-254G>A, NM_004907.2:c.-254G>C

Select item 14890617277.

rs1489061727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13151504 (GRCh38)
19:13262318 (GRCh37)
Canonical SPDI:: NC_000019.10:13151503:G:A,NC_000019.10:13151503:G:C
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00021/4 (TOMMO)
HGVS:: NC_000019.10:g.13151504G>A, NC_000019.10:g.13151504G>C, NC_000019.9:g.13262318G>A, NC_000019.9:g.13262318G>C

Select item 14889514458.

rs1488951445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13148809 (GRCh38)
19:13259623 (GRCh37)
Canonical SPDI:: NC_000019.10:13148808:T:C
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.13148809T>C, NC_000019.9:g.13259623T>C

Select item 14888366059.

rs1488836605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13150979 (GRCh38)
19:13261793 (GRCh37)
Canonical SPDI:: NC_000019.10:13150978:G:A
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13150979G>A, NC_000019.9:g.13261793G>A

Select item 148874517410.

rs1488745174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:13153006 (GRCh38)
19:13263820 (GRCh37)
Canonical SPDI:: NC_000019.10:13153005:A:C,NC_000019.10:13153005:A:G
Gene:: IER2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13153006A>C, NC_000019.10:g.13153006A>G, NC_000019.9:g.13263820A>C, NC_000019.9:g.13263820A>G, NM_004907.3:c.-181A>C, NM_004907.3:c.-181A>G, NM_004907.2:c.-181A>C, NM_004907.2:c.-181A>G

Select item 148869654611.

rs1488696546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13151202 (GRCh38)
19:13262016 (GRCh37)
Canonical SPDI:: NC_000019.10:13151201:G:A
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13151202G>A, NC_000019.9:g.13262016G>A

Select item 148808023212.

rs1488080232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13154503 (GRCh38)
19:13265317 (GRCh37)
Canonical SPDI:: NC_000019.10:13154502:G:A
Gene:: IER2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.13154503G>A, NC_000019.9:g.13265317G>A, NM_004907.3:c.*645G>A, NM_004907.2:c.*645G>A

Select item 148785128813.

rs1487851288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13149924 (GRCh38)
19:13260738 (GRCh37)
Canonical SPDI:: NC_000019.10:13149923:G:A
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13149924G>A, NC_000019.9:g.13260738G>A

Select item 148750114214.

rs1487501142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:13153223 (GRCh38)
19:13264037 (GRCh37)
Canonical SPDI:: NC_000019.10:13153222:C:A
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13153223C>A, NC_000019.9:g.13264037C>A, NM_004907.3:c.37C>A, NM_004907.2:c.37C>A, NP_004898.2:p.Leu13Met

Select item 148744701315.

rs1487447013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:13150471 (GRCh38)
19:13261285 (GRCh37)
Canonical SPDI:: NC_000019.10:13150470:C:G
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.13150471C>G, NC_000019.9:g.13261285C>G, NM_004907.3:c.-325C>G, NM_004907.2:c.-325C>G

Select item 148724448816.

rs1487244488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13152900 (GRCh38)
19:13263714 (GRCh37)
Canonical SPDI:: NC_000019.10:13152899:C:G,NC_000019.10:13152899:C:T
Gene:: IER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13152900C>G, NC_000019.10:g.13152900C>T, NC_000019.9:g.13263714C>G, NC_000019.9:g.13263714C>T

Select item 148718885417.

rs1487188854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153544 (GRCh38)
19:13264358 (GRCh37)
Canonical SPDI:: NC_000019.10:13153543:C:T
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.13153544C>T, NC_000019.9:g.13264358C>T, NM_004907.3:c.358C>T, NM_004907.2:c.358C>T, NP_004898.2:p.Arg120Cys

Select item 148622167318.

rs1486221673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:13149253 (GRCh38)
19:13260067 (GRCh37)
Canonical SPDI:: NC_000019.10:13149252:A:C
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.13149253A>C, NC_000019.9:g.13260067A>C

Select item 148560937219.

rs1485609372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:13152804 (GRCh38)
19:13263618 (GRCh37)
Canonical SPDI:: NC_000019.10:13152803:G:C
Gene:: IER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00006/16 (TOPMED)
C=0.000071/10 (GnomAD)
HGVS:: NC_000019.10:g.13152804G>C, NC_000019.9:g.13263618G>C

Select item 148555687020.

rs1485556870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13150961 (GRCh38)
19:13261775 (GRCh37)
Canonical SPDI:: NC_000019.10:13150960:T:C
Gene:: STX10 (Varview), IER2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13150961T>C, NC_000019.9:g.13261775T>C

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