SNP Links for Gene (Select 406987) - SNP

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Select item 14876751431.

rs1487675143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:70811765 (GRCh38)
9:73426681 (GRCh37)
Canonical SPDI:: NC_000009.12:70811764:G:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000009.12:g.70811765G>T, NC_000009.11:g.73426681G>T, NG_047197.1:g.640160C>A

Select item 14872337432.

rs1487233743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:70810456 (GRCh38)
9:73425372 (GRCh37)
Canonical SPDI:: NC_000009.12:70810455:A:G
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.70810456A>G, NC_000009.11:g.73425372A>G, NG_047197.1:g.641469T>C

Select item 14865432663.

rs1486543266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70810202 (GRCh38)
9:73425118 (GRCh37)
Canonical SPDI:: NC_000009.12:70810201:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.70810202C>T, NC_000009.11:g.73425118C>T, NG_047197.1:g.641723G>A

Select item 14848125494.

rs1484812549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:70810140 (GRCh38)
9:73425056 (GRCh37)
Canonical SPDI:: NC_000009.12:70810139:T:A,NC_000009.12:70810139:T:C,NC_000009.12:70810139:T:G
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000023/3 (GnomAD)
G=0.001026/17 (TOMMO)
G=0.002655/17 (1000Genomes)
HGVS:: NC_000009.12:g.70810140T>A, NC_000009.12:g.70810140T>C, NC_000009.12:g.70810140T>G, NC_000009.11:g.73425056T>A, NC_000009.11:g.73425056T>C, NC_000009.11:g.73425056T>G, NG_047197.1:g.641785A>T, NG_047197.1:g.641785A>G, NG_047197.1:g.641785A>C

Select item 14829507055.

rs1482950705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70810560 (GRCh38)
9:73425476 (GRCh37)
Canonical SPDI:: NC_000009.12:70810559:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.70810560C>T, NC_000009.11:g.73425476C>T, NG_047197.1:g.641365G>A

Select item 14823082976.

rs1482308297 has merged into rs774622742 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTT>-,CTTTTCTTTT [Show Flanks]
Chromosome:: 9:70811809 (GRCh38)
9:73426725 (GRCh37)
Canonical SPDI:: NC_000009.12:70811795:TTTCTTTTCTTTTCTTTT:TTTCTTTTCTTTT,NC_000009.12:70811795:TTTCTTTTCTTTTCTTTT:TTTCTTTTCTTTTCTTTTCTTTT
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTTCTTTTCTTTTCTTTT=0./0 (ALFA)
TTTCT=0./0 (ALSPAC)
TTTCT=0.00054/2 (TWINSUK)
HGVS:: NC_000009.12:g.70811799CTTTT[2], NC_000009.12:g.70811799CTTTT[4], NC_000009.11:g.73426715CTTTT[2], NC_000009.11:g.73426715CTTTT[4], NG_047197.1:g.640115AGAAA[2], NG_047197.1:g.640115AGAAA[4]

Select item 14819671167.

rs1481967116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:70811069 (GRCh38)
9:73425985 (GRCh37)
Canonical SPDI:: NC_000009.12:70811068:G:C
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.70811069G>C, NC_000009.11:g.73425985G>C, NG_047197.1:g.640856C>G

Select item 14795195858.

rs1479519585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70811170 (GRCh38)
9:73426086 (GRCh37)
Canonical SPDI:: NC_000009.12:70811169:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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_000009.12:g.70811170C>T, NC_000009.11:g.73426086C>T, NG_047197.1:g.640755G>A, NM_206946.5:c.589G>A, NM_206946.4:c.589G>A, NM_206946.3:c.589G>A, NM_206947.5:c.589G>A, NM_206947.4:c.589G>A, NM_206947.3:c.589G>A, NM_001007470.3:c.589G>A, NM_001007470.2:c.589G>A, NM_001007470.1:c.589G>A, NM_001366147.2:c.1048G>A, NM_001366147.1:c.1048G>A, NM_001366152.2:c.1048G>A, NM_001366152.1:c.1048G>A, NM_001366148.2:c.1048G>A, NM_001366148.1:c.1048G>A, NP_996829.3:p.Gly197Arg, NP_996830.3:p.Gly197Arg, NP_001007471.1:p.Gly197Arg, NP_001353076.1:p.Gly350Arg, NP_001353081.1:p.Gly350Arg, NP_001353077.1:p.Gly350Arg

Select item 14742138609.

rs1474213860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:70810589 (GRCh38)
9:73425505 (GRCh37)
Canonical SPDI:: NC_000009.12:70810588:A:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000009.12:g.70810589A>T, NC_000009.11:g.73425505A>T, NG_047197.1:g.641336T>A

Select item 147309155310.

rs1473091553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:70811662 (GRCh38)
9:73426578 (GRCh37)
Canonical SPDI:: NC_000009.12:70811661:A:C
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000009.12:g.70811662A>C, NC_000009.11:g.73426578A>C, NG_047197.1:g.640263T>G

Select item 147246645111.

rs1472466451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70811169 (GRCh38)
9:73426085 (GRCh37)
Canonical SPDI:: NC_000009.12:70811168:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: splice_donor_variant,2KB_upstream_variant,intron_variant,upstream_transcript_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_000009.12:g.70811169C>T, NC_000009.11:g.73426085C>T, NG_047197.1:g.640756G>A

Select item 147172321012.

rs1471723210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:70810286 (GRCh38)
9:73425202 (GRCh37)
Canonical SPDI:: NC_000009.12:70810285:G:A,NC_000009.12:70810285:G:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0.00003/3 (GnomAD)
A=0.00048/8 (TOMMO)
A=0.00924/27 (KOREAN)
HGVS:: NC_000009.12:g.70810286G>A, NC_000009.12:g.70810286G>T, NC_000009.11:g.73425202G>A, NC_000009.11:g.73425202G>T, NG_047197.1:g.641639C>T, NG_047197.1:g.641639C>A

Select item 147099735113.

rs1470997351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:70810549 (GRCh38)
9:73425465 (GRCh37)
Canonical SPDI:: NC_000009.12:70810548:T:C
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000068/18 (TOPMED)
HGVS:: NC_000009.12:g.70810549T>C, NC_000009.11:g.73425465T>C, NG_047197.1:g.641376A>G

Select item 147065631514.

rs1470656315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:70811127 (GRCh38)
9:73426043 (GRCh37)
Canonical SPDI:: NC_000009.12:70811126:G:A
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.70811127G>A, NC_000009.11:g.73426043G>A, NG_047197.1:g.640798C>T

Select item 147047067615.

rs1470470676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:70810353 (GRCh38)
9:73425269 (GRCh37)
Canonical SPDI:: NC_000009.12:70810352:A:G
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000268/36 (GnomAD)
HGVS:: NC_000009.12:g.70810353A>G, NC_000009.11:g.73425269A>G, NG_047197.1:g.641572T>C

Select item 146976149516.

rs1469761495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:70810892 (GRCh38)
9:73425808 (GRCh37)
Canonical SPDI:: NC_000009.12:70810891:T:C
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.70810892T>C, NC_000009.11:g.73425808T>C, NG_047197.1:g.641033A>G

Select item 146924767817.

rs1469247678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70809905 (GRCh38)
9:73424821 (GRCh37)
Canonical SPDI:: NC_000009.12:70809904:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.70809905C>T, NC_000009.11:g.73424821C>T, NG_047197.1:g.642020G>A

Select item 146898453518.

rs1468984535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:70810939 (GRCh38)
9:73425855 (GRCh37)
Canonical SPDI:: NC_000009.12:70810938:C:T
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.70810939C>T, NC_000009.11:g.73425855C>T, NG_047197.1:g.640986G>A

Select item 146674583919.

rs1466745839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:70811515 (GRCh38)
9:73426431 (GRCh37)
Canonical SPDI:: NC_000009.12:70811514:G:A
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.70811515G>A, NC_000009.11:g.73426431G>A, NG_047197.1:g.640410C>T

Select item 146670037520.

rs1466700375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:70809588 (GRCh38)
9:73424504 (GRCh37)
Canonical SPDI:: NC_000009.12:70809587:T:C
Gene:: TRPM3 (Varview), MIR204 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_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_000009.12:g.70809588T>C, NC_000009.11:g.73424504T>C, NG_047197.1:g.642337A>G

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