SNP Links for Protein (Select 13569848) - SNP

Links from Protein

Items: 1 to 20 of 508

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Select item 14906667371.

rs1490666737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45101317 (GRCh38)
7:45140916 (GRCh37)
Canonical SPDI:: NC_000007.14:45101316:G:A
Gene:: TBRG4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45101317G>A, NC_000007.13:g.45140916G>A, NM_004749.4:c.1735C>T, NM_004749.3:c.1735C>T, NM_030900.4:c.1405C>T, NM_030900.3:c.1405C>T, NM_199122.3:c.1405C>T, NM_199122.2:c.1405C>T, NM_001261834.2:c.1768C>T, NM_001261834.1:c.1768C>T

Select item 14892756012.

rs1489275601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45105510 (GRCh38)
7:45145109 (GRCh37)
Canonical SPDI:: NC_000007.14:45105509:G:A
Gene:: TBRG4 (Varview), SNORA5A (Varview), SNORA5B (Varview), SNORA5C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45105510G>A, NC_000007.13:g.45145109G>A, NM_004749.4:c.666C>T, NM_004749.3:c.666C>T, NM_030900.4:c.666C>T, NM_030900.3:c.666C>T, NM_199122.3:c.666C>T, NM_199122.2:c.666C>T, NM_001261834.2:c.699C>T, NM_001261834.1:c.699C>T

Select item 14827825433.

rs1482782543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:45101836 (GRCh38)
7:45141435 (GRCh37)
Canonical SPDI:: NC_000007.14:45101835:C:A
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45101836C>A, NC_000007.13:g.45141435C>A, NM_004749.4:c.1556G>T, NM_004749.3:c.1556G>T, NM_030900.4:c.1226G>T, NM_030900.3:c.1226G>T, NM_199122.3:c.1226G>T, NM_199122.2:c.1226G>T, NM_001261834.2:c.1589G>T, NM_001261834.1:c.1589G>T, NP_004740.2:p.Gly519Val, NP_112162.1:p.Gly409Val, NP_954573.1:p.Gly409Val, NP_001248763.1:p.Gly530Val

Select item 14825655044.

rs1482565504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45108894 (GRCh38)
7:45148493 (GRCh37)
Canonical SPDI:: NC_000007.14:45108893:G:A
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.45108894G>A, NC_000007.13:g.45148493G>A, NM_004749.4:c.344C>T, NM_004749.3:c.344C>T, NM_030900.4:c.344C>T, NM_030900.3:c.344C>T, NM_199122.3:c.344C>T, NM_199122.2:c.344C>T, NM_001261834.2:c.377C>T, NM_001261834.1:c.377C>T, NP_004740.2:p.Pro115Leu, NP_112162.1:p.Pro115Leu, NP_954573.1:p.Pro115Leu, NP_001248763.1:p.Pro126Leu

Select item 14813660165.

rs1481366016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45101597 (GRCh38)
7:45141196 (GRCh37)
Canonical SPDI:: NC_000007.14:45101596:C:T
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.45101597C>T, NC_000007.13:g.45141196C>T, NM_004749.4:c.1585G>A, NM_004749.3:c.1585G>A, NM_030900.4:c.1255G>A, NM_030900.3:c.1255G>A, NM_199122.3:c.1255G>A, NM_199122.2:c.1255G>A, NM_001261834.2:c.1618G>A, NM_001261834.1:c.1618G>A, NP_004740.2:p.Asp529Asn, NP_112162.1:p.Asp419Asn, NP_954573.1:p.Asp419Asn, NP_001248763.1:p.Asp540Asn

Select item 14809395646.

rs1480939564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:45101995 (GRCh38)
7:45141594 (GRCh37)
Canonical SPDI:: NC_000007.14:45101994:G:C
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45101995G>C, NC_000007.13:g.45141594G>C, NM_004749.4:c.1397C>G, NM_004749.3:c.1397C>G, NM_030900.4:c.1067C>G, NM_030900.3:c.1067C>G, NM_199122.3:c.1067C>G, NM_199122.2:c.1067C>G, NM_001261834.2:c.1430C>G, NM_001261834.1:c.1430C>G, NP_004740.2:p.Pro466Arg, NP_112162.1:p.Pro356Arg, NP_954573.1:p.Pro356Arg, NP_001248763.1:p.Pro477Arg

Select item 14803842567.

rs1480384256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45101986 (GRCh38)
7:45141585 (GRCh37)
Canonical SPDI:: NC_000007.14:45101985:G:A
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45101986G>A, NC_000007.13:g.45141585G>A, NM_004749.4:c.1406C>T, NM_004749.3:c.1406C>T, NM_030900.4:c.1076C>T, NM_030900.3:c.1076C>T, NM_199122.3:c.1076C>T, NM_199122.2:c.1076C>T, NM_001261834.2:c.1439C>T, NM_001261834.1:c.1439C>T, NP_004740.2:p.Ser469Leu, NP_112162.1:p.Ser359Leu, NP_954573.1:p.Ser359Leu, NP_001248763.1:p.Ser480Leu

Select item 14768425328.

rs1476842532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:45109176 (GRCh38)
7:45148775 (GRCh37)
Canonical SPDI:: NC_000007.14:45109175:G:C
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.45109176G>C, NC_000007.13:g.45148775G>C, NM_004749.4:c.62C>G, NM_004749.3:c.62C>G, NM_030900.4:c.62C>G, NM_030900.3:c.62C>G, NM_199122.3:c.62C>G, NM_199122.2:c.62C>G, NM_001261834.2:c.95C>G, NM_001261834.1:c.95C>G, NP_004740.2:p.Pro21Arg, NP_112162.1:p.Pro21Arg, NP_954573.1:p.Pro21Arg, NP_001248763.1:p.Pro32Arg

Select item 14763547219.

rs1476354721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:45105606 (GRCh38)
7:45145205 (GRCh37)
Canonical SPDI:: NC_000007.14:45105605:G:A,NC_000007.14:45105605:G:C
Gene:: TBRG4 (Varview), SNORA5A (Varview), SNORA5B (Varview), SNORA5C (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.45105606G>A, NC_000007.14:g.45105606G>C, NC_000007.13:g.45145205G>A, NC_000007.13:g.45145205G>C, NM_004749.4:c.570C>T, NM_004749.4:c.570C>G, NM_004749.3:c.570C>T, NM_004749.3:c.570C>G, NM_030900.4:c.570C>T, NM_030900.4:c.570C>G, NM_030900.3:c.570C>T, NM_030900.3:c.570C>G, NM_199122.3:c.570C>T, NM_199122.3:c.570C>G, NM_199122.2:c.570C>T, NM_199122.2:c.570C>G, NM_001261834.2:c.603C>T, NM_001261834.2:c.603C>G, NM_001261834.1:c.603C>T, NM_001261834.1:c.603C>G

Select item 147632509710.

rs1476325097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:45109181 (GRCh38)
7:45148780 (GRCh37)
Canonical SPDI:: NC_000007.14:45109180:C:A
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45109181C>A, NC_000007.13:g.45148780C>A, NM_004749.4:c.57G>T, NM_004749.3:c.57G>T, NM_030900.4:c.57G>T, NM_030900.3:c.57G>T, NM_199122.3:c.57G>T, NM_199122.2:c.57G>T, NM_001261834.2:c.90G>T, NM_001261834.1:c.90G>T, NP_004740.2:p.Gln19His, NP_112162.1:p.Gln19His, NP_954573.1:p.Gln19His, NP_001248763.1:p.Gln30His

Select item 147286445311.

rs1472864453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45102427 (GRCh38)
7:45142026 (GRCh37)
Canonical SPDI:: NC_000007.14:45102426:C:T
Gene:: TBRG4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45102427C>T, NC_000007.13:g.45142026C>T, NM_004749.4:c.1241G>A, NM_004749.3:c.1241G>A, NM_030900.4:c.911G>A, NM_030900.3:c.911G>A, NM_199122.3:c.911G>A, NM_199122.2:c.911G>A, NM_001261834.2:c.1274G>A, NM_001261834.1:c.1274G>A, NP_004740.2:p.Trp414Ter, NP_112162.1:p.Trp304Ter, NP_954573.1:p.Trp304Ter, NP_001248763.1:p.Trp425Ter

Select item 147085404612.

rs1470854046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45101918 (GRCh38)
7:45141517 (GRCh37)
Canonical SPDI:: NC_000007.14:45101917:G:A
Gene:: TBRG4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45101918G>A, NC_000007.13:g.45141517G>A, NM_004749.4:c.1474C>T, NM_004749.3:c.1474C>T, NM_030900.4:c.1144C>T, NM_030900.3:c.1144C>T, NM_199122.3:c.1144C>T, NM_199122.2:c.1144C>T, NM_001261834.2:c.1507C>T, NM_001261834.1:c.1507C>T

Select item 147042599713.

rs1470425997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:45102358 (GRCh38)
7:45141957 (GRCh37)
Canonical SPDI:: NC_000007.14:45102357:A:G
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.45102358A>G, NC_000007.13:g.45141957A>G, NM_004749.4:c.1310T>C, NM_004749.3:c.1310T>C, NM_030900.4:c.980T>C, NM_030900.3:c.980T>C, NM_199122.3:c.980T>C, NM_199122.2:c.980T>C, NM_001261834.2:c.1343T>C, NM_001261834.1:c.1343T>C, NP_004740.2:p.Ile437Thr, NP_112162.1:p.Ile327Thr, NP_954573.1:p.Ile327Thr, NP_001248763.1:p.Ile448Thr

Select item 146951194114.

rs1469511941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:45103436 (GRCh38)
7:45143035 (GRCh37)
Canonical SPDI:: NC_000007.14:45103435:A:G
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.45103436A>G, NC_000007.13:g.45143035A>G, NM_004749.4:c.1073T>C, NM_004749.3:c.1073T>C, NM_030900.4:c.743T>C, NM_030900.3:c.743T>C, NM_199122.3:c.743T>C, NM_199122.2:c.743T>C, NM_001261834.2:c.1106T>C, NM_001261834.1:c.1106T>C, NP_004740.2:p.Leu358Pro, NP_112162.1:p.Leu248Pro, NP_954573.1:p.Leu248Pro, NP_001248763.1:p.Leu369Pro

Select item 146869423315.

rs1468694233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45103433 (GRCh38)
7:45143032 (GRCh37)
Canonical SPDI:: NC_000007.14:45103432:T:C
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.45103433T>C, NC_000007.13:g.45143032T>C, NM_004749.4:c.1076A>G, NM_004749.3:c.1076A>G, NM_030900.4:c.746A>G, NM_030900.3:c.746A>G, NM_199122.3:c.746A>G, NM_199122.2:c.746A>G, NM_001261834.2:c.1109A>G, NM_001261834.1:c.1109A>G, NP_004740.2:p.Asn359Ser, NP_112162.1:p.Asn249Ser, NP_954573.1:p.Asn249Ser, NP_001248763.1:p.Asn370Ser

Select item 146414037216.

rs1464140372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45101593 (GRCh38)
7:45141192 (GRCh37)
Canonical SPDI:: NC_000007.14:45101592:C:T
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.45101593C>T, NC_000007.13:g.45141192C>T, NM_004749.4:c.1589G>A, NM_004749.3:c.1589G>A, NM_030900.4:c.1259G>A, NM_030900.3:c.1259G>A, NM_199122.3:c.1259G>A, NM_199122.2:c.1259G>A, NM_001261834.2:c.1622G>A, NM_001261834.1:c.1622G>A, NP_004740.2:p.Ser530Asn, NP_112162.1:p.Ser420Asn, NP_954573.1:p.Ser420Asn, NP_001248763.1:p.Ser541Asn

Select item 146362584917.

rs1463625849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:45108906 (GRCh38)
7:45148505 (GRCh37)
Canonical SPDI:: NC_000007.14:45108905:A:G
Gene:: TBRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.45108906A>G, NC_000007.13:g.45148505A>G, NM_004749.4:c.332T>C, NM_004749.3:c.332T>C, NM_030900.4:c.332T>C, NM_030900.3:c.332T>C, NM_199122.3:c.332T>C, NM_199122.2:c.332T>C, NM_001261834.2:c.365T>C, NM_001261834.1:c.365T>C, NP_004740.2:p.Leu111Pro, NP_112162.1:p.Leu111Pro, NP_954573.1:p.Leu111Pro, NP_001248763.1:p.Leu122Pro

Select item 146310815318.

rs1463108153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:45105519 (GRCh38)
7:45145118 (GRCh37)
Canonical SPDI:: NC_000007.14:45105518:T:G
Gene:: TBRG4 (Varview), SNORA5A (Varview), SNORA5B (Varview), SNORA5C (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45105519T>G, NC_000007.13:g.45145118T>G, NM_004749.4:c.657A>C, NM_004749.3:c.657A>C, NM_030900.4:c.657A>C, NM_030900.3:c.657A>C, NM_199122.3:c.657A>C, NM_199122.2:c.657A>C, NM_001261834.2:c.690A>C, NM_001261834.1:c.690A>C, NP_004740.2:p.Glu219Asp, NP_112162.1:p.Glu219Asp, NP_954573.1:p.Glu219Asp, NP_001248763.1:p.Glu230Asp

Select item 146147818919.

rs1461478189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:45101905 (GRCh38)
7:45141504 (GRCh37)
Canonical SPDI:: NC_000007.14:45101904:A:G
Gene:: TBRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45101905A>G, NC_000007.13:g.45141504A>G, NM_004749.4:c.1487T>C, NM_004749.3:c.1487T>C, NM_030900.4:c.1157T>C, NM_030900.3:c.1157T>C, NM_199122.3:c.1157T>C, NM_199122.2:c.1157T>C, NM_001261834.2:c.1520T>C, NM_001261834.1:c.1520T>C, NP_004740.2:p.Leu496Pro, NP_112162.1:p.Leu386Pro, NP_954573.1:p.Leu386Pro, NP_001248763.1:p.Leu507Pro

Select item 146057955220.

rs1460579552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:45103402 (GRCh38)
7:45143001 (GRCh37)
Canonical SPDI:: NC_000007.14:45103401:C:T
Gene:: TBRG4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45103402C>T, NC_000007.13:g.45143001C>T, NM_004749.4:c.1107G>A, NM_004749.3:c.1107G>A, NM_030900.4:c.777G>A, NM_030900.3:c.777G>A, NM_199122.3:c.777G>A, NM_199122.2:c.777G>A, NM_001261834.2:c.1140G>A, NM_001261834.1:c.1140G>A

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