SNP Links for Protein (Select 17975597) - SNP

Links from Protein

Items: 1 to 20 of 197

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Select item 14870698971.

rs1487069897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:31105055 (GRCh38)
22:31501041 (GRCh37)
Canonical SPDI:: NC_000022.11:31105054:G:T
Gene:: SMTN (Varview), SELENOM (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
HGVS:: NC_000022.11:g.31105055G>T, NC_000022.10:g.31501041G>T, NG_029838.1:g.28760G>T, NM_080430.4:c.353C>A, NM_080430.3:c.353C>A, NM_080430.2:c.353C>A, NP_536355.1:p.Ala118Glu

Select item 14804565272.

rs1480456527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:31107485 (GRCh38)
22:31503471 (GRCh37)
Canonical SPDI:: NC_000022.11:31107484:C:A
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31107485C>A, NC_000022.10:g.31503471C>A, NM_080430.4:c.21G>T, NM_080430.3:c.21G>T, NM_080430.2:c.21G>T

Select item 14658558363.

rs1465855836 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTGTGGC [Show Flanks]
Chromosome:: 22:31107431 (GRCh38)
22:31503418 (GRCh37)
Canonical SPDI:: NC_000022.11:31107431:GTGGCGGCTGTGGC:GTGGCGGCTGTGGCGGCTGTGGC
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGCGGCTGTGGCGGCTGTGGC=0.000142/2 (ALFA)
GTGGCGGCT=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.31107437_31107445dup, NC_000022.10:g.31503423_31503431dup, NM_080430.4:c.66_74dup, NM_080430.3:c.66_74dup, NM_080430.2:c.66_74dup, NP_536355.1:p.21ATA[3]

Select item 14623507634.

rs1462350763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:31105661 (GRCh38)
22:31501647 (GRCh37)
Canonical SPDI:: NC_000022.11:31105660:A:T
Gene:: SELENOM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000022.11:g.31105661A>T, NC_000022.10:g.31501647A>T, NG_029838.1:g.29366A>T, NM_080430.4:c.197T>A, NM_080430.3:c.197T>A, NM_080430.2:c.197T>A, NP_536355.1:p.Phe66Tyr

Select item 14593368575.

rs1459336857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31105030 (GRCh38)
22:31501016 (GRCh37)
Canonical SPDI:: NC_000022.11:31105029:G:A
Gene:: SMTN (Varview), SELENOM (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.31105030G>A, NC_000022.10:g.31501016G>A, NG_029838.1:g.28735G>A, NM_080430.4:c.378C>T, NM_080430.3:c.378C>T, NM_080430.2:c.378C>T

Select item 14582696386.

rs1458269638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:31107402 (GRCh38)
22:31503388 (GRCh37)
Canonical SPDI:: NC_000022.11:31107401:C:G,NC_000022.11:31107401:C:T
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31107402C>G, NC_000022.11:g.31107402C>T, NC_000022.10:g.31503388C>G, NC_000022.10:g.31503388C>T, NM_080430.4:c.104G>C, NM_080430.4:c.104G>A, NM_080430.3:c.104G>C, NM_080430.3:c.104G>A, NM_080430.2:c.104G>C, NM_080430.2:c.104G>A, NP_536355.1:p.Ser35Thr, NP_536355.1:p.Ser35Asn

Select item 14547880737.

rs1454788073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:31105230 (GRCh38)
22:31501216 (GRCh37)
Canonical SPDI:: NC_000022.11:31105229:C:G
Gene:: SELENOM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.31105230C>G, NC_000022.10:g.31501216C>G, NG_029838.1:g.28935C>G, NM_080430.4:c.257G>C, NM_080430.3:c.257G>C, NM_080430.2:c.257G>C, NP_536355.1:p.Gly86Ala

Select item 14503458048.

rs1450345804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:31107472 (GRCh38)
22:31503458 (GRCh37)
Canonical SPDI:: NC_000022.11:31107471:G:C
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.31107472G>C, NC_000022.10:g.31503458G>C, NM_080430.4:c.34C>G, NM_080430.3:c.34C>G, NM_080430.2:c.34C>G, NP_536355.1:p.Leu12Val

Select item 14471539649.

rs1447153964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:31105666 (GRCh38)
22:31501652 (GRCh37)
Canonical SPDI:: NC_000022.11:31105665:A:G
Gene:: SELENOM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31105666A>G, NC_000022.10:g.31501652A>G, NG_029838.1:g.29371A>G, NM_080430.4:c.192T>C, NM_080430.3:c.192T>C, NM_080430.2:c.192T>C

Select item 144690304610.

rs1446903046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:31107448 (GRCh38)
22:31503434 (GRCh37)
Canonical SPDI:: NC_000022.11:31107447:G:A,NC_000022.11:31107447:G:C
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.31107448G>A, NC_000022.11:g.31107448G>C, NC_000022.10:g.31503434G>A, NC_000022.10:g.31503434G>C, NM_080430.4:c.58C>T, NM_080430.4:c.58C>G, NM_080430.3:c.58C>T, NM_080430.3:c.58C>G, NM_080430.2:c.58C>T, NM_080430.2:c.58C>G, NP_536355.1:p.Pro20Ser, NP_536355.1:p.Pro20Ala

Select item 144503446611.

rs1445034466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:31105284 (GRCh38)
22:31501270 (GRCh37)
Canonical SPDI:: NC_000022.11:31105283:T:G
Gene:: SELENOM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31105284T>G, NC_000022.10:g.31501270T>G, NG_029838.1:g.28989T>G, NM_080430.4:c.203A>C, NM_080430.3:c.203A>C, NM_080430.2:c.203A>C, NP_536355.1:p.His68Pro

Select item 144239043212.

rs1442390432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31105681 (GRCh38)
22:31501667 (GRCh37)
Canonical SPDI:: NC_000022.11:31105680:G:A
Gene:: SELENOM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000022.11:g.31105681G>A, NC_000022.10:g.31501667G>A, NG_029838.1:g.29386G>A, NM_080430.4:c.177C>T, NM_080430.3:c.177C>T, NM_080430.2:c.177C>T

Select item 143936546013.

rs1439365460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 22:31105124 (GRCh38)
22:31501110 (GRCh37)
Canonical SPDI:: NC_000022.11:31105123:A:C,NC_000022.11:31105123:A:T
Gene:: SMTN (Varview), SELENOM (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31105124A>C, NC_000022.11:g.31105124A>T, NC_000022.10:g.31501110A>C, NC_000022.10:g.31501110A>T, NG_029838.1:g.28829A>C, NG_029838.1:g.28829A>T, NM_080430.4:c.284T>G, NM_080430.4:c.284T>A, NM_080430.3:c.284T>G, NM_080430.3:c.284T>A, NM_080430.2:c.284T>G, NM_080430.2:c.284T>A, NP_536355.1:p.Ile95Ser, NP_536355.1:p.Ile95Asn

Select item 143391701914.

rs1433917019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:31105249 (GRCh38)
22:31501235 (GRCh37)
Canonical SPDI:: NC_000022.11:31105248:G:C
Gene:: SELENOM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31105249G>C, NC_000022.10:g.31501235G>C, NG_029838.1:g.28954G>C, NM_080430.4:c.238C>G, NM_080430.3:c.238C>G, NM_080430.2:c.238C>G, NP_536355.1:p.Pro80Ala

Select item 142475950115.

rs1424759501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31107499 (GRCh38)
22:31503485 (GRCh37)
Canonical SPDI:: NC_000022.11:31107498:G:A
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31107499G>A, NC_000022.10:g.31503485G>A, NM_080430.4:c.7C>T, NM_080430.3:c.7C>T, NM_080430.2:c.7C>T, NP_536355.1:p.Leu3Phe

Select item 141954631716.

rs1419546317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:31105116 (GRCh38)
22:31501102 (GRCh37)
Canonical SPDI:: NC_000022.11:31105115:T:C
Gene:: SMTN (Varview), SELENOM (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31105116T>C, NC_000022.10:g.31501102T>C, NG_029838.1:g.28821T>C, NM_080430.4:c.292A>G, NM_080430.3:c.292A>G, NM_080430.2:c.292A>G, NP_536355.1:p.Ser98Gly

Select item 141928347817.

rs1419283478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:31105081 (GRCh38)
22:31501067 (GRCh37)
Canonical SPDI:: NC_000022.11:31105080:C:A,NC_000022.11:31105080:C:T
Gene:: SMTN (Varview), SELENOM (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.31105081C>A, NC_000022.11:g.31105081C>T, NC_000022.10:g.31501067C>A, NC_000022.10:g.31501067C>T, NG_029838.1:g.28786C>A, NG_029838.1:g.28786C>T, NM_080430.4:c.327G>T, NM_080430.4:c.327G>A, NM_080430.3:c.327G>T, NM_080430.3:c.327G>A, NM_080430.2:c.327G>T, NM_080430.2:c.327G>A

Select item 140858603818.

rs1408586038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:31105244 (GRCh38)
22:31501230 (GRCh37)
Canonical SPDI:: NC_000022.11:31105243:C:G
Gene:: SELENOM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.31105244C>G, NC_000022.10:g.31501230C>G, NG_029838.1:g.28949C>G, NM_080430.4:c.243G>C, NM_080430.3:c.243G>C, NM_080430.2:c.243G>C, NP_536355.1:p.Glu81Asp

Select item 140157683519.

rs1401576835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31107447 (GRCh38)
22:31503433 (GRCh37)
Canonical SPDI:: NC_000022.11:31107446:G:A
Gene:: SELENOM (Varview), LOC105372995 (Varview), LOC124905100 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31107447G>A, NC_000022.10:g.31503433G>A, NM_080430.4:c.59C>T, NM_080430.3:c.59C>T, NM_080430.2:c.59C>T, NP_536355.1:p.Pro20Leu

Select item 140100758020.

rs1401007580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:31105937 (GRCh38)
22:31501923 (GRCh37)
Canonical SPDI:: NC_000022.11:31105936:A:G
Gene:: SELENOM (Varview), LOC124905100 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31105937A>G, NC_000022.10:g.31501923A>G, NG_029838.1:g.29642A>G, NM_080430.4:c.158T>C, NM_080430.3:c.158T>C, NM_080430.2:c.158T>C, NP_536355.1:p.Leu53Pro

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