SNP Links for Gene (Select 94235) - SNP

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Select item 14903723251.

rs1490372325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46640195 (GRCh38)
19:47143452 (GRCh37)
Canonical SPDI:: NC_000019.10:46640194:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46640195C>T, NC_000019.9:g.47143452C>T

Select item 14901799302.

rs1490179930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:46636100 (GRCh38)
19:47139357 (GRCh37)
Canonical SPDI:: NC_000019.10:46636099:G:A,NC_000019.10:46636099:G:C
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.46636100G>A, NC_000019.10:g.46636100G>C, NC_000019.9:g.47139357G>A, NC_000019.9:g.47139357G>C

Select item 14900881713.

rs1490088171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:46639938 (GRCh38)
19:47143195 (GRCh37)
Canonical SPDI:: NC_000019.10:46639937:A:C
Gene:: GNG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46639938A>C, NC_000019.9:g.47143195A>C

Select item 14900467934.

rs1490046793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46637885 (GRCh38)
19:47141142 (GRCh37)
Canonical SPDI:: NC_000019.10:46637884:A:G
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46637885A>G, NC_000019.9:g.47141142A>G, XM_017027504.3:c.-1448T>C, XM_017027504.2:c.-1448T>C, XM_017027504.1:c.-1448T>C

Select item 14900312515.

rs1490031251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:46640029 (GRCh38)
19:47143286 (GRCh37)
Canonical SPDI:: NC_000019.10:46640028:A:T
Gene:: GNG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46640029A>T, NC_000019.9:g.47143286A>T

Select item 14898836026.

rs1489883602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46638986 (GRCh38)
19:47142243 (GRCh37)
Canonical SPDI:: NC_000019.10:46638985:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.46638986C>T, NC_000019.9:g.47142243C>T, NG_080836.1:g.15C>T, XM_017027504.3:c.-2549G>A, XM_017027504.2:c.-2549G>A, XM_017027504.1:c.-2549G>A

Select item 14889412607.

rs1488941260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:46635878 (GRCh38)
19:47139135 (GRCh37)
Canonical SPDI:: NC_000019.10:46635877:A:C
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46635878A>C, NC_000019.9:g.47139135A>C

Select item 14888998828.

rs1488899882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:46635441 (GRCh38)
19:47138698 (GRCh37)
Canonical SPDI:: NC_000019.10:46635440:T:C,NC_000019.10:46635440:T:G
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.01849/54 (KOREAN)
HGVS:: NC_000019.10:g.46635441T>C, NC_000019.10:g.46635441T>G, NC_000019.9:g.47138698T>C, NC_000019.9:g.47138698T>G

Select item 14888898229.

rs1488889822 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:46635811 (GRCh38)
19:47139069 (GRCh37)
Canonical SPDI:: NC_000019.10:46635811::A
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.46635811_46635812insA, NC_000019.9:g.47139068_47139069insA

Select item 148867816710.

rs1488678167 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA>-,GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA [Show Flanks]
Chromosome:: 19:46635751 (GRCh38)
19:47139008 (GRCh37)
Canonical SPDI:: NC_000019.10:46635702:GGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA:GGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA,NC_000019.10:46635702:GGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA:GGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.01769/26 (Korea1K)
-=0.03189/353 (TOMMO)
HGVS:: NC_000019.10:g.46635712GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA[1], NC_000019.10:g.46635712GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA[3], NC_000019.9:g.47138969GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA[1], NC_000019.9:g.47138969GGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGA[3]

Select item 148867465111.

rs1488674651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:46636777 (GRCh38)
19:47140034 (GRCh37)
Canonical SPDI:: NC_000019.10:46636776:C:G
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.46636777C>G, NC_000019.9:g.47140034C>G, XM_017027504.3:c.-340G>C, XM_017027504.2:c.-340G>C, XM_017027504.1:c.-340G>C

Select item 148848499712.

rs1488484997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:46639163 (GRCh38)
19:47142420 (GRCh37)
Canonical SPDI:: NC_000019.10:46639162:C:A
Gene:: GNG8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46639163C>A, NC_000019.9:g.47142420C>A, NG_080836.1:g.192C>A

Select item 148840292513.

rs1488402925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCAT [Show Flanks]
Chromosome:: 19:46634500 (GRCh38)
19:47137758 (GRCh37)
Canonical SPDI:: NC_000019.10:46634500:GGGGCAT:GGGGCATGGGGCAT
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCATGGGGCAT=0./0 (ALFA)
GGGGCAT=0.000004/1 (TOPMED)
GGGGCAT=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.46634501_46634507dup, NC_000019.9:g.47137758_47137764dup

Select item 148798996214.

rs1487989962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46640429 (GRCh38)
19:47143686 (GRCh37)
Canonical SPDI:: NC_000019.10:46640428:C:T
Gene:: GNG8 (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=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.46640429C>T, NC_000019.9:g.47143686C>T

Select item 148778965415.

rs1487789654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46637509 (GRCh38)
19:47140766 (GRCh37)
Canonical SPDI:: NC_000019.10:46637508:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.46637509C>T, NC_000019.9:g.47140766C>T, XM_017027504.3:c.-1072G>A, XM_017027504.2:c.-1072G>A, XM_017027504.1:c.-1072G>A

Select item 148686882616.

rs1486868826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46634387 (GRCh38)
19:47137644 (GRCh37)
Canonical SPDI:: NC_000019.10:46634386:G:A
Gene:: GNG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.46634387G>A, NC_000019.9:g.47137644G>A

Select item 148685071317.

rs1486850713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46634664 (GRCh38)
19:47137921 (GRCh37)
Canonical SPDI:: NC_000019.10:46634663:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46634664T>C, NC_000019.9:g.47137921T>C, XM_017027504.3:c.19A>G, XM_017027504.2:c.19A>G, XM_017027504.1:c.19A>G, NM_033258.2:c.19A>G, NM_033258.1:c.19A>G, XM_047439725.1:c.19A>G, XM_017027505.1:c.19A>G, XP_016882993.1:p.Lys7Glu, NP_150283.1:p.Lys7Glu, XP_047295681.1:p.Lys7Glu, XP_016882994.1:p.Lys7Glu

Select item 148652812618.

rs1486528126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46638209 (GRCh38)
19:47141466 (GRCh37)
Canonical SPDI:: NC_000019.10:46638208:C:T
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.46638209C>T, NC_000019.9:g.47141466C>T, XM_017027504.3:c.-1772G>A, XM_017027504.2:c.-1772G>A, XM_017027504.1:c.-1772G>A

Select item 148624588219.

rs1486245882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46635143 (GRCh38)
19:47138400 (GRCh37)
Canonical SPDI:: NC_000019.10:46635142:G:A
Gene:: GNG8 (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_000019.10:g.46635143G>A, NC_000019.9:g.47138400G>A

Select item 148609816720.

rs1486098167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46638694 (GRCh38)
19:47141951 (GRCh37)
Canonical SPDI:: NC_000019.10:46638693:T:C
Gene:: GNG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46638694T>C, NC_000019.9:g.47141951T>C, XM_017027504.3:c.-2257A>G, XM_017027504.2:c.-2257A>G, XM_017027504.1:c.-2257A>G

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