SNP Links for Protein (Select 975830154) - SNP

Links from Protein

Items: 1 to 20 of 168

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Select item 14867438341.

rs1486743834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122781199 (GRCh38)
6:123102344 (GRCh37)
Canonical SPDI:: NC_000006.12:122781198:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,intron_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_000006.12:g.122781199G>A, NC_000006.11:g.123102344G>A, NG_050619.1:g.36999G>A, NM_001319041.2:c.*688G>A, NM_001319041.1:c.*688G>A, NM_001319039.2:c.353G>A, NM_001319039.1:c.353G>A, NP_001305968.1:p.Ser118Asn

Select item 14797127332.

rs1479712733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122781297 (GRCh38)
6:123102442 (GRCh37)
Canonical SPDI:: NC_000006.12:122781296:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.122781297C>T, NC_000006.11:g.123102442C>T, NG_050619.1:g.37097C>T, NM_001319041.2:c.*786C>T, NM_001319041.1:c.*786C>T, NM_001319039.2:c.451C>T, NM_001319039.1:c.451C>T, NP_001305968.1:p.Pro151Ser

Select item 14678648113.

rs1467864811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:122781302 (GRCh38)
6:123102447 (GRCh37)
Canonical SPDI:: NC_000006.12:122781301:C:G,NC_000006.12:122781301:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.122781302C>G, NC_000006.12:g.122781302C>T, NC_000006.11:g.123102447C>G, NC_000006.11:g.123102447C>T, NG_050619.1:g.37102C>G, NG_050619.1:g.37102C>T, NM_001319041.2:c.*791C>G, NM_001319041.2:c.*791C>T, NM_001319041.1:c.*791C>G, NM_001319041.1:c.*791C>T, NM_001319039.2:c.456C>G, NM_001319039.2:c.456C>T, NM_001319039.1:c.456C>G, NM_001319039.1:c.456C>T

Select item 14590355964.

rs1459035596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122781323 (GRCh38)
6:123102468 (GRCh37)
Canonical SPDI:: NC_000006.12:122781322:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122781323G>A, NC_000006.11:g.123102468G>A, NG_050619.1:g.37123G>A, NM_001319041.2:c.*812G>A, NM_001319041.1:c.*812G>A, NM_001319039.2:c.477G>A, NM_001319039.1:c.477G>A

Select item 14536331125.

rs1453633112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122781248 (GRCh38)
6:123102393 (GRCh37)
Canonical SPDI:: NC_000006.12:122781247:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122781248C>T, NC_000006.11:g.123102393C>T, NG_050619.1:g.37048C>T, NM_001319041.2:c.*737C>T, NM_001319041.1:c.*737C>T, NM_001319039.2:c.402C>T, NM_001319039.1:c.402C>T

Select item 14522173916.

rs1452217391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:122781152 (GRCh38)
6:123102297 (GRCh37)
Canonical SPDI:: NC_000006.12:122781151:A:G
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000006.12:g.122781152A>G, NC_000006.11:g.123102297A>G, NG_050619.1:g.36952A>G, NM_001446.5:c.306A>G, NM_001446.4:c.306A>G, NM_001446.3:c.306A>G, NM_001319041.2:c.*641A>G, NM_001319041.1:c.*641A>G, NM_001319039.2:c.306A>G, NM_001319039.1:c.306A>G, NM_001319042.2:c.294A>G, NM_001319042.1:c.294A>G

Select item 14444786337.

rs1444478633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:122779821 (GRCh38)
6:123100966 (GRCh37)
Canonical SPDI:: NC_000006.12:122779820:G:C,NC_000006.12:122779820:G:T
Gene:: FABP7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.122779821G>C, NC_000006.12:g.122779821G>T, NC_000006.11:g.123100966G>C, NC_000006.11:g.123100966G>T, NG_050619.1:g.35621G>C, NG_050619.1:g.35621G>T, NM_001446.5:c.27G>C, NM_001446.5:c.27G>T, NM_001446.4:c.27G>C, NM_001446.4:c.27G>T, NM_001446.3:c.27G>C, NM_001446.3:c.27G>T, NM_001319041.2:c.27G>C, NM_001319041.2:c.27G>T, NM_001319041.1:c.27G>C, NM_001319041.1:c.27G>T, NM_001319039.2:c.27G>C, NM_001319039.2:c.27G>T, NM_001319039.1:c.27G>C, NM_001319039.1:c.27G>T, NP_001437.1:p.Trp9Cys, NP_001437.1:p.Trp9Cys, NP_001305970.1:p.Trp9Cys, NP_001305970.1:p.Trp9Cys, NP_001305968.1:p.Trp9Cys, NP_001305968.1:p.Trp9Cys

Select item 14416463088.

rs1441646308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:122780329 (GRCh38)
6:123101474 (GRCh37)
Canonical SPDI:: NC_000006.12:122780328:A:G
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122780329A>G, NC_000006.11:g.123101474A>G, NG_050619.1:g.36129A>G, NM_001446.5:c.112A>G, NM_001446.4:c.112A>G, NM_001446.3:c.112A>G, NM_001319041.2:c.112A>G, NM_001319041.1:c.112A>G, NM_001319039.2:c.112A>G, NM_001319039.1:c.112A>G, NM_001319042.2:c.100A>G, NM_001319042.1:c.100A>G, NP_001437.1:p.Lys38Glu, NP_001305970.1:p.Lys38Glu, NP_001305968.1:p.Lys38Glu, NP_001305971.1:p.Lys34Glu

Select item 14408436879.

rs1440843687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122781338 (GRCh38)
6:123102483 (GRCh37)
Canonical SPDI:: NC_000006.12:122781337:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122781338C>T, NC_000006.11:g.123102483C>T, NG_050619.1:g.37138C>T, NM_001319041.2:c.*827C>T, NM_001319041.1:c.*827C>T, NM_001319039.2:c.492C>T, NM_001319039.1:c.492C>T

Select item 143709414810.

rs1437094148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:122780370 (GRCh38)
6:123101515 (GRCh37)
Canonical SPDI:: NC_000006.12:122780369:C:G
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.122780370C>G, NC_000006.11:g.123101515C>G, NG_050619.1:g.36170C>G, NM_001446.5:c.153C>G, NM_001446.4:c.153C>G, NM_001446.3:c.153C>G, NM_001319041.2:c.153C>G, NM_001319041.1:c.153C>G, NM_001319039.2:c.153C>G, NM_001319039.1:c.153C>G, NM_001319042.2:c.141C>G, NM_001319042.1:c.141C>G

Select item 143671982111.

rs1436719821 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:122780381 (GRCh38)
6:123101526 (GRCh37)
Canonical SPDI:: NC_000006.12:122780377:CTCTC:CTC
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122780379TC[1], NC_000006.11:g.123101524TC[1], NG_050619.1:g.36179TC[1], NM_001446.5:c.164_165del, NM_001446.4:c.164_165del, NM_001446.3:c.164_165del, NM_001319041.2:c.164_165del, NM_001319041.1:c.164_165del, NM_001319039.2:c.164_165del, NM_001319039.1:c.164_165del, NM_001319042.2:c.152_153del, NM_001319042.1:c.152_153del, NP_001437.1:p.Leu55fs, NP_001305970.1:p.Leu55fs, NP_001305968.1:p.Leu55fs, NP_001305971.1:p.Leu51fs

Select item 143002263112.

rs1430022631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:122781277 (GRCh38)
6:123102422 (GRCh37)
Canonical SPDI:: NC_000006.12:122781276:T:A
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.122781277T>A, NC_000006.11:g.123102422T>A, NG_050619.1:g.37077T>A, NM_001319041.2:c.*766T>A, NM_001319041.1:c.*766T>A, NM_001319039.2:c.431T>A, NM_001319039.1:c.431T>A, NP_001305968.1:p.Leu144His

Select item 142867218613.

rs1428672186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:122781318 (GRCh38)
6:123102463 (GRCh37)
Canonical SPDI:: NC_000006.12:122781317:T:C
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.122781318T>C, NC_000006.11:g.123102463T>C, NG_050619.1:g.37118T>C, NM_001319041.2:c.*807T>C, NM_001319041.1:c.*807T>C, NM_001319039.2:c.472T>C, NM_001319039.1:c.472T>C, NP_001305968.1:p.Ser158Pro

Select item 142177697214.

rs1421776972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:122780354 (GRCh38)
6:123101499 (GRCh37)
Canonical SPDI:: NC_000006.12:122780353:A:G
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.122780354A>G, NC_000006.11:g.123101499A>G, NG_050619.1:g.36154A>G, NM_001446.5:c.137A>G, NM_001446.4:c.137A>G, NM_001446.3:c.137A>G, NM_001319041.2:c.137A>G, NM_001319041.1:c.137A>G, NM_001319039.2:c.137A>G, NM_001319039.1:c.137A>G, NM_001319042.2:c.125A>G, NM_001319042.1:c.125A>G, NP_001437.1:p.Glu46Gly, NP_001305970.1:p.Glu46Gly, NP_001305968.1:p.Glu46Gly, NP_001305971.1:p.Glu42Gly

Select item 141719049015.

rs1417190490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122781233 (GRCh38)
6:123102378 (GRCh37)
Canonical SPDI:: NC_000006.12:122781232:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.122781233C>T, NC_000006.11:g.123102378C>T, NG_050619.1:g.37033C>T, NM_001319041.2:c.*722C>T, NM_001319041.1:c.*722C>T, NM_001319039.2:c.387C>T, NM_001319039.1:c.387C>T

Select item 141277678516.

rs1412776785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:122779815 (GRCh38)
6:123100960 (GRCh37)
Canonical SPDI:: NC_000006.12:122779814:T:C
Gene:: FABP7 (Varview)
Functional Consequence:: intron_variant,synonymous_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_000006.12:g.122779815T>C, NC_000006.11:g.123100960T>C, NG_050619.1:g.35615T>C, NM_001446.5:c.21T>C, NM_001446.4:c.21T>C, NM_001446.3:c.21T>C, NM_001319041.2:c.21T>C, NM_001319041.1:c.21T>C, NM_001319039.2:c.21T>C, NM_001319039.1:c.21T>C

Select item 140942671417.

rs1409426714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122780415 (GRCh38)
6:123101560 (GRCh37)
Canonical SPDI:: NC_000006.12:122780414:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122780415G>A, NC_000006.11:g.123101560G>A, NG_050619.1:g.36215G>A, NM_001446.5:c.198G>A, NM_001446.4:c.198G>A, NM_001446.3:c.198G>A, NM_001319041.2:c.198G>A, NM_001319041.1:c.198G>A, NM_001319039.2:c.198G>A, NM_001319039.1:c.198G>A, NM_001319042.2:c.186G>A, NM_001319042.1:c.186G>A

Select item 140651430718.

rs1406514307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:122780307 (GRCh38)
6:123101452 (GRCh37)
Canonical SPDI:: NC_000006.12:122780306:T:C
Gene:: FABP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.122780307T>C, NC_000006.11:g.123101452T>C, NG_050619.1:g.36107T>C, NM_001446.5:c.90T>C, NM_001446.4:c.90T>C, NM_001446.3:c.90T>C, NM_001319041.2:c.90T>C, NM_001319041.1:c.90T>C, NM_001319039.2:c.90T>C, NM_001319039.1:c.90T>C, NM_001319042.2:c.78T>C, NM_001319042.1:c.78T>C

Select item 140461455219.

rs1404614552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122781261 (GRCh38)
6:123102406 (GRCh37)
Canonical SPDI:: NC_000006.12:122781260:C:T
Gene:: FABP7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_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_000006.12:g.122781261C>T, NC_000006.11:g.123102406C>T, NG_050619.1:g.37061C>T, NM_001319041.2:c.*750C>T, NM_001319041.1:c.*750C>T, NM_001319039.2:c.415C>T, NM_001319039.1:c.415C>T, NP_001305968.1:p.Pro139Ser

Select item 140245434020.

rs1402454340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:122779848 (GRCh38)
6:123100993 (GRCh37)
Canonical SPDI:: NC_000006.12:122779847:T:G
Gene:: FABP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.122779848T>G, NC_000006.11:g.123100993T>G, NG_050619.1:g.35648T>G, NM_001446.5:c.54T>G, NM_001446.4:c.54T>G, NM_001446.3:c.54T>G, NM_001319041.2:c.54T>G, NM_001319041.1:c.54T>G, NM_001319039.2:c.54T>G, NM_001319039.1:c.54T>G, NP_001437.1:p.Asp18Glu, NP_001305970.1:p.Asp18Glu, NP_001305968.1:p.Asp18Glu

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