SNP Links for Protein (Select 975830160) - SNP

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:122749303 (GRCh38)
6:123070448 (GRCh37)
Canonical SPDI:: NC_000006.12:122749302:T:
Gene:: FABP7 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.122749303del, NC_000006.11:g.123070448del, NG_050619.1:g.5103del, NM_001319042.2:c.30del, NM_001319042.1:c.30del, NP_001305971.1:p.Ala11fs

Select item 14094267149.

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 140651430710.

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 140163943411.

rs1401639434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122783756 (GRCh38)
6:123104901 (GRCh37)
Canonical SPDI:: NC_000006.12:122783755:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.122783756G>A, NC_000006.11:g.123104901G>A, NG_050619.1:g.39556G>A, NM_001446.5:c.388G>A, NM_001446.4:c.388G>A, NM_001446.3:c.388G>A, NM_001319041.2:c.*3245G>A, NM_001319041.1:c.*3245G>A, NM_001319042.2:c.376G>A, NM_001319042.1:c.376G>A, NP_001437.1:p.Glu130Lys, NP_001305971.1:p.Glu126Lys

Select item 139773338112.

rs1397733381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:122780411 (GRCh38)
6:123101556 (GRCh37)
Canonical SPDI:: NC_000006.12:122780410:T:G
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.122780411T>G, NC_000006.11:g.123101556T>G, NG_050619.1:g.36211T>G, NM_001446.5:c.194T>G, NM_001446.4:c.194T>G, NM_001446.3:c.194T>G, NM_001319041.2:c.194T>G, NM_001319041.1:c.194T>G, NM_001319039.2:c.194T>G, NM_001319039.1:c.194T>G, NM_001319042.2:c.182T>G, NM_001319042.1:c.182T>G, NP_001437.1:p.Phe65Cys, NP_001305970.1:p.Phe65Cys, NP_001305968.1:p.Phe65Cys, NP_001305971.1:p.Phe61Cys

Select item 139752938213.

rs1397529382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:122780409 (GRCh38)
6:123101554 (GRCh37)
Canonical SPDI:: NC_000006.12:122780408: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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.122780409T>C, NC_000006.11:g.123101554T>C, NG_050619.1:g.36209T>C, NM_001446.5:c.192T>C, NM_001446.4:c.192T>C, NM_001446.3:c.192T>C, NM_001319041.2:c.192T>C, NM_001319041.1:c.192T>C, NM_001319039.2:c.192T>C, NM_001319039.1:c.192T>C, NM_001319042.2:c.180T>C, NM_001319042.1:c.180T>C

Select item 139153189614.

rs1391531896 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:122781190 (GRCh38)
6:123102335 (GRCh37)
Canonical SPDI:: NC_000006.12:122781189:TT:T
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.122781191del, NC_000006.11:g.123102336del, NG_050619.1:g.36991del, NM_001446.5:c.345del, NM_001446.4:c.345del, NM_001446.3:c.345del, NM_001319041.2:c.*680del, NM_001319041.1:c.*680del, NM_001319039.2:c.345del, NM_001319039.1:c.345del, NM_001319042.2:c.333del, NM_001319042.1:c.333del, NP_001437.1:p.Val115_Met116insTer, NP_001305968.1:p.Met116fs, NP_001305971.1:p.Val111_Met112insTer

Select item 138600158115.

rs1386001581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122783735 (GRCh38)
6:123104880 (GRCh37)
Canonical SPDI:: NC_000006.12:122783734:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_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.122783735G>A, NC_000006.11:g.123104880G>A, NG_050619.1:g.39535G>A, NM_001446.5:c.367G>A, NM_001446.4:c.367G>A, NM_001446.3:c.367G>A, NM_001319041.2:c.*3224G>A, NM_001319041.1:c.*3224G>A, NM_001319042.2:c.355G>A, NM_001319042.1:c.355G>A, NP_001437.1:p.Val123Met, NP_001305971.1:p.Val119Met

Select item 137957238616.

rs1379572386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:122780402 (GRCh38)
6:123101547 (GRCh37)
Canonical SPDI:: NC_000006.12:122780401:A:T
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.122780402A>T, NC_000006.11:g.123101547A>T, NG_050619.1:g.36202A>T, NM_001446.5:c.185A>T, NM_001446.4:c.185A>T, NM_001446.3:c.185A>T, NM_001319041.2:c.185A>T, NM_001319041.1:c.185A>T, NM_001319039.2:c.185A>T, NM_001319039.1:c.185A>T, NM_001319042.2:c.173A>T, NM_001319042.1:c.173A>T, NP_001437.1:p.Glu62Val, NP_001305970.1:p.Glu62Val, NP_001305968.1:p.Glu62Val, NP_001305971.1:p.Glu58Val

Select item 137524579617.

rs1375245796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122780316 (GRCh38)
6:123101461 (GRCh37)
Canonical SPDI:: NC_000006.12:122780315:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122780316G>A, NC_000006.11:g.123101461G>A, NG_050619.1:g.36116G>A, NM_001446.5:c.99G>A, NM_001446.4:c.99G>A, NM_001446.3:c.99G>A, NM_001319041.2:c.99G>A, NM_001319041.1:c.99G>A, NM_001319039.2:c.99G>A, NM_001319039.1:c.99G>A, NM_001319042.2:c.87G>A, NM_001319042.1:c.87G>A

Select item 137208404318.

rs1372084043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:122780344 (GRCh38)
6:123101489 (GRCh37)
Canonical SPDI:: NC_000006.12:122780343:A:G,NC_000006.12:122780343:A:T
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.122780344A>G, NC_000006.12:g.122780344A>T, NC_000006.11:g.123101489A>G, NC_000006.11:g.123101489A>T, NG_050619.1:g.36144A>G, NG_050619.1:g.36144A>T, NM_001446.5:c.127A>G, NM_001446.5:c.127A>T, NM_001446.4:c.127A>G, NM_001446.4:c.127A>T, NM_001446.3:c.127A>G, NM_001446.3:c.127A>T, NM_001319041.2:c.127A>G, NM_001319041.2:c.127A>T, NM_001319041.1:c.127A>G, NM_001319041.1:c.127A>T, NM_001319039.2:c.127A>G, NM_001319039.2:c.127A>T, NM_001319039.1:c.127A>G, NM_001319039.1:c.127A>T, NM_001319042.2:c.115A>G, NM_001319042.2:c.115A>T, NM_001319042.1:c.115A>G, NM_001319042.1:c.115A>T, NP_001437.1:p.Ile43Val, NP_001437.1:p.Ile43Phe, NP_001305970.1:p.Ile43Val, NP_001305970.1:p.Ile43Phe, NP_001305968.1:p.Ile43Val, NP_001305968.1:p.Ile43Phe, NP_001305971.1:p.Ile39Val, NP_001305971.1:p.Ile39Phe

Select item 136850028819.

rs1368500288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122780449 (GRCh38)
6:123101594 (GRCh37)
Canonical SPDI:: NC_000006.12:122780448:G:A
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.122780449G>A, NC_000006.11:g.123101594G>A, NG_050619.1:g.36249G>A, NM_001446.5:c.232G>A, NM_001446.4:c.232G>A, NM_001446.3:c.232G>A, NM_001319041.2:c.232G>A, NM_001319041.1:c.232G>A, NM_001319039.2:c.232G>A, NM_001319039.1:c.232G>A, NM_001319042.2:c.220G>A, NM_001319042.1:c.220G>A, NP_001437.1:p.Asp78Asn, NP_001305970.1:p.Asp78Asn, NP_001305968.1:p.Asp78Asn, NP_001305971.1:p.Asp74Asn

Select item 136322824220.

rs1363228242 [Homo sapiens]

Variant type:: DEL
Alleles:: AAATTT>- [Show Flanks]
Chromosome:: 6:122781155 (GRCh38)
6:123102300 (GRCh37)
Canonical SPDI:: NC_000006.12:122781154:AAATTT:
Gene:: FABP7 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.122781155_122781160del, NC_000006.11:g.123102300_123102305del, NG_050619.1:g.36955_36960del, NM_001446.5:c.309_314del, NM_001446.4:c.309_314del, NM_001446.3:c.309_314del, NM_001319041.2:c.*644_*649del, NM_001319041.1:c.*644_*649del, NM_001319039.2:c.309_314del, NM_001319039.1:c.309_314del, NM_001319042.2:c.297_302del, NM_001319042.1:c.297_302del, NP_001437.1:p.Asn104_Phe105del, NP_001305968.1:p.Asn104_Phe105del, NP_001305971.1:p.Asn100_Phe101del

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