SNP Links for Gene (Select 9123) - SNP

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Select item 14915400461.

rs1491540046 has merged into rs150048859 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 17:82232927 (GRCh38)
17:80190803 (GRCh37)
Canonical SPDI:: NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000017.11:82232918:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
GGG=0.25/10 (GENOME_DK)
HGVS:: NC_000017.11:g.82232927_82232928del, NC_000017.11:g.82232928del, NC_000017.11:g.82232928dup, NC_000017.11:g.82232927_82232928dup, NC_000017.11:g.82232926_82232928dup, NC_000017.11:g.82232925_82232928dup, NC_000017.11:g.82232924_82232928dup, NC_000017.11:g.82232923_82232928dup, NC_000017.11:g.82232922_82232928dup, NC_000017.11:g.82232928_82232929insGGGGGGGGGGGGGGGG, NC_000017.10:g.80190803_80190804del, NC_000017.10:g.80190804del, NC_000017.10:g.80190804dup, NC_000017.10:g.80190803_80190804dup, NC_000017.10:g.80190802_80190804dup, NC_000017.10:g.80190801_80190804dup, NC_000017.10:g.80190800_80190804dup, NC_000017.10:g.80190799_80190804dup, NC_000017.10:g.80190798_80190804dup, NC_000017.10:g.80190804_80190805insGGGGGGGGGGGGGGGG, XM_047437036.1:c.-2803_-2802del, XM_047437036.1:c.-2802del, XM_047437036.1:c.-2802dup, XM_047437036.1:c.-2803_-2802dup, XM_047437036.1:c.-2804_-2802dup, XM_047437036.1:c.-2805_-2802dup, XM_047437036.1:c.-2806_-2802dup, XM_047437036.1:c.-2807_-2802dup, XM_047437036.1:c.-2808_-2802dup, XM_047437036.1:c.-2802_-2801insGGGGGGGGGGGGGGGG

Select item 14910553582.

rs1491055358 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:82234296 (GRCh38)
17:80192172 (GRCh37)
Canonical SPDI:: NC_000017.11:82234293:CTCT:CT
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000084/1 (ALFA)
-=0.000107/15 (GnomAD)
HGVS:: NC_000017.11:g.82234294CT[1], NC_000017.10:g.80192170CT[1], XM_047437036.1:c.-1436CT[1]

Select item 14908963323.

rs1490896332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82234833 (GRCh38)
17:80192709 (GRCh37)
Canonical SPDI:: NC_000017.11:82234832:G:A
Gene:: SLC16A3 (Varview), MIR6787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_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_000017.11:g.82234833G>A, NC_000017.10:g.80192709G>A, XM_047437036.1:c.-897G>A

Select item 14908812794.

rs1490881279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82235663 (GRCh38)
17:80193539 (GRCh37)
Canonical SPDI:: NC_000017.11:82235662:G:A
Gene:: SLC16A3 (Varview), MIR6787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_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_000017.11:g.82235663G>A, NC_000017.10:g.80193539G>A, XM_047437036.1:c.-67G>A

Select item 14906771525.

rs1490677152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGAGTC>- [Show Flanks]
Chromosome:: 17:82230911 (GRCh38)
17:80188787 (GRCh37)
Canonical SPDI:: NC_000017.11:82230908:TCACGAGTC:TC
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82230911_82230917del, NC_000017.10:g.80188787_80188793del, XM_047437036.1:c.-4819_-4813del, XM_047437037.1:c.-441_-435del

Select item 14904950346.

rs1490495034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82239150 (GRCh38)
17:80197026 (GRCh37)
Canonical SPDI:: NC_000017.11:82239149:G:A
Gene:: CSNK1D (Varview), SLC16A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.82239150G>A, NC_000017.10:g.80197026G>A, NG_012828.2:g.39593C>T, NM_001363749.2:c.*826C>T, NM_001363749.1:c.*826C>T, NM_004207.4:c.*174G>A, NM_004207.3:c.*174G>A, NM_001042423.3:c.*174G>A, NM_001042423.2:c.*174G>A, NM_001042422.3:c.*174G>A, NM_001042422.2:c.*174G>A, XM_024451023.2:c.*174G>A, XM_024451023.1:c.*174G>A, NM_001206950.2:c.*174G>A, NM_001206950.1:c.*174G>A, NM_001206951.2:c.*174G>A, NM_001206951.1:c.*174G>A, NM_001206952.2:c.*174G>A, NM_001206952.1:c.*174G>A, XM_047437036.1:c.*174G>A, XM_047437037.1:c.*174G>A

Select item 14904838277.

rs1490483827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:82231193 (GRCh38)
17:80189069 (GRCh37)
Canonical SPDI:: NC_000017.11:82231192:G:A,NC_000017.11:82231192:G:T
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,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_000017.11:g.82231193G>A, NC_000017.11:g.82231193G>T, NC_000017.10:g.80189069G>A, NC_000017.10:g.80189069G>T, XM_047437036.1:c.-4537G>A, XM_047437036.1:c.-4537G>T, XM_047437037.1:c.-159G>A, XM_047437037.1:c.-159G>T

Select item 14904648908.

rs1490464890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82235643 (GRCh38)
17:80193519 (GRCh37)
Canonical SPDI:: NC_000017.11:82235642:G:A
Gene:: SLC16A3 (Varview), MIR6787 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000053/14 (TOPMED)
A=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.82235643G>A, NC_000017.10:g.80193519G>A, XM_047437036.1:c.-87G>A

Select item 14899046659.

rs1489904665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82234281 (GRCh38)
17:80192157 (GRCh37)
Canonical SPDI:: NC_000017.11:82234280:G:A
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82234281G>A, NC_000017.10:g.80192157G>A, XM_047437036.1:c.-1449G>A

Select item 148966692810.

rs1489666928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:82236160 (GRCh38)
17:80194036 (GRCh37)
Canonical SPDI:: NC_000017.11:82236159:A:G,NC_000017.11:82236159:A:T
Gene:: SLC16A3 (Varview), MIR6787 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.82236160A>G, NC_000017.11:g.82236160A>T, NC_000017.10:g.80194036A>G, NC_000017.10:g.80194036A>T, NM_004207.4:c.152A>G, NM_004207.4:c.152A>T, NM_004207.3:c.152A>G, NM_004207.3:c.152A>T, NM_001042423.3:c.152A>G, NM_001042423.3:c.152A>T, NM_001042423.2:c.152A>G, NM_001042423.2:c.152A>T, NM_001042422.3:c.152A>G, NM_001042422.3:c.152A>T, NM_001042422.2:c.152A>G, NM_001042422.2:c.152A>T, XM_024451023.2:c.152A>G, XM_024451023.2:c.152A>T, XM_024451023.1:c.152A>G, XM_024451023.1:c.152A>T, NM_001206950.2:c.152A>G, NM_001206950.2:c.152A>T, NM_001206950.1:c.152A>G, NM_001206950.1:c.152A>T, NM_001206951.2:c.152A>G, NM_001206951.2:c.152A>T, NM_001206951.1:c.152A>G, NM_001206951.1:c.152A>T, NM_001206952.2:c.152A>G, NM_001206952.2:c.152A>T, NM_001206952.1:c.152A>G, NM_001206952.1:c.152A>T, XM_047437036.1:c.152A>G, XM_047437036.1:c.152A>T, XM_047437037.1:c.152A>G, XM_047437037.1:c.152A>T, NP_004198.1:p.Gln51Arg, NP_004198.1:p.Gln51Leu, NP_001035888.1:p.Gln51Arg, NP_001035888.1:p.Gln51Leu, NP_001035887.1:p.Gln51Arg, NP_001035887.1:p.Gln51Leu, XP_024306791.1:p.Gln51Arg, XP_024306791.1:p.Gln51Leu, NP_001193879.1:p.Gln51Arg, NP_001193879.1:p.Gln51Leu, NP_001193880.1:p.Gln51Arg, NP_001193880.1:p.Gln51Leu, NP_001193881.1:p.Gln51Arg, NP_001193881.1:p.Gln51Leu, XP_047292992.1:p.Gln51Arg, XP_047292992.1:p.Gln51Leu, XP_047292993.1:p.Gln51Arg, XP_047292993.1:p.Gln51Leu

Select item 148955043111.

rs1489550431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82226888 (GRCh38)
17:80184764 (GRCh37)
Canonical SPDI:: NC_000017.11:82226887:T:C
Gene:: SLC16A3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82226888T>C, NC_000017.10:g.80184764T>C

Select item 148953181012.

rs1489531810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82228683 (GRCh38)
17:80186559 (GRCh37)
Canonical SPDI:: NC_000017.11:82228682:G:A
Gene:: SLC16A3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82228683G>A, NC_000017.10:g.80186559G>A

Select item 148944479313.

rs1489444793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTTACCAG [Show Flanks]
Chromosome:: 17:82228043 (GRCh38)
17:80185920 (GRCh37)
Canonical SPDI:: NC_000017.11:82228043:GGGCTTACCAG:GGGCTTACCAGGGCTTACCAG
Gene:: SLC16A3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGCTTACCAGGGCTTACCAG=0./0 (ALFA)
GGGCTTACCA=0.000004/1 (TOPMED)
GGGCTTACCA=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.82228045_82228054dup, NC_000017.10:g.80185921_80185930dup

Select item 148931609214.

rs1489316092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82229169 (GRCh38)
17:80187045 (GRCh37)
Canonical SPDI:: NC_000017.11:82229168:G:A
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82229169G>A, NC_000017.10:g.80187045G>A, XM_047437036.1:c.-6561G>A, XM_047437037.1:c.-2183G>A

Select item 148930711715.

rs1489307117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82229831 (GRCh38)
17:80187707 (GRCh37)
Canonical SPDI:: NC_000017.11:82229830:A:G
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82229831A>G, NC_000017.10:g.80187707A>G, XM_047437036.1:c.-5899A>G, XM_047437037.1:c.-1521A>G

Select item 148913844716.

rs1489138447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:82239169 (GRCh38)
17:80197045 (GRCh37)
Canonical SPDI:: NC_000017.11:82239168:C:G
Gene:: CSNK1D (Varview), SLC16A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.82239169C>G, NC_000017.10:g.80197045C>G, NG_012828.2:g.39574G>C, NM_001363749.2:c.*807G>C, NM_001363749.1:c.*807G>C, NM_004207.4:c.*193C>G, NM_004207.3:c.*193C>G, NM_001042423.3:c.*193C>G, NM_001042423.2:c.*193C>G, NM_001042422.3:c.*193C>G, NM_001042422.2:c.*193C>G, XM_024451023.2:c.*193C>G, XM_024451023.1:c.*193C>G, NM_001206950.2:c.*193C>G, NM_001206950.1:c.*193C>G, NM_001206951.2:c.*193C>G, NM_001206951.1:c.*193C>G, NM_001206952.2:c.*193C>G, NM_001206952.1:c.*193C>G, XM_047437036.1:c.*193C>G, XM_047437037.1:c.*193C>G

Select item 148895803917.

rs1488958039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82229114 (GRCh38)
17:80186990 (GRCh37)
Canonical SPDI:: NC_000017.11:82229113:C:T
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.82229114C>T, NC_000017.10:g.80186990C>T, XM_047437036.1:c.-6616C>T, XM_047437037.1:c.-2238C>T

Select item 148886735518.

rs1488867355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:82229733 (GRCh38)
17:80187609 (GRCh37)
Canonical SPDI:: NC_000017.11:82229732:C:G
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.82229733C>G, NC_000017.10:g.80187609C>G, XM_047437036.1:c.-5997C>G, XM_047437037.1:c.-1619C>G

Select item 148884334219.

rs1488843342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:82238520 (GRCh38)
17:80196396 (GRCh37)
Canonical SPDI:: NC_000017.11:82238519:A:C,NC_000017.11:82238519:A:T
Gene:: CSNK1D (Varview), SLC16A3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82238520A>C, NC_000017.11:g.82238520A>T, NC_000017.10:g.80196396A>C, NC_000017.10:g.80196396A>T, NG_012828.2:g.40223T>G, NG_012828.2:g.40223T>A

Select item 148876820620.

rs1488768206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82233283 (GRCh38)
17:80191159 (GRCh37)
Canonical SPDI:: NC_000017.11:82233282:G:A
Gene:: SLC16A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.82233283G>A, NC_000017.10:g.80191159G>A, XM_047437036.1:c.-2447G>A

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