SNP Links for Protein (Select 301897974) - SNP

Links from Protein

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Select item 14909633851.

rs1490963385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56930652 (GRCh38)
4:57796818 (GRCh37)
Canonical SPDI:: NC_000004.12:56930651:G:A
Gene:: REST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930652G>A, NC_000004.11:g.57796818G>A, NG_029447.1:g.27777G>A, NM_005612.5:c.1794G>A, NM_005612.4:c.1794G>A, NM_001363453.2:c.1794G>A, NM_001363453.1:c.1794G>A, NM_001193508.1:c.1794G>A, XM_017008527.2:c.1710G>A, XM_017008527.1:c.1710G>A, XM_047416053.1:c.1710G>A

Select item 14907740642.

rs1490774064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:56931968 (GRCh38)
4:57798134 (GRCh37)
Canonical SPDI:: NC_000004.12:56931967:C:A,NC_000004.12:56931967:C:T
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56931968C>A, NC_000004.12:g.56931968C>T, NC_000004.11:g.57798134C>A, NC_000004.11:g.57798134C>T, NG_029447.1:g.29093C>A, NG_029447.1:g.29093C>T, NM_005612.5:c.3110C>A, NM_005612.5:c.3110C>T, NM_005612.4:c.3110C>A, NM_005612.4:c.3110C>T, NM_001363453.2:c.3110C>A, NM_001363453.2:c.3110C>T, NM_001363453.1:c.3110C>A, NM_001363453.1:c.3110C>T, NM_001193508.1:c.3110C>A, NM_001193508.1:c.3110C>T, XM_017008527.2:c.3026C>A, XM_017008527.2:c.3026C>T, XM_017008527.1:c.3026C>A, XM_017008527.1:c.3026C>T, XM_047416053.1:c.3026C>A, XM_047416053.1:c.3026C>T, NP_005603.3:p.Pro1037Gln, NP_005603.3:p.Pro1037Leu, NP_001350382.1:p.Pro1037Gln, NP_001350382.1:p.Pro1037Leu, NP_001180437.1:p.Pro1037Gln, NP_001180437.1:p.Pro1037Leu, XP_016864016.1:p.Pro1009Gln, XP_016864016.1:p.Pro1009Leu, XP_047272009.1:p.Pro1009Gln, XP_047272009.1:p.Pro1009Leu

Select item 14901408303.

rs1490140830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:56930292 (GRCh38)
4:57796458 (GRCh37)
Canonical SPDI:: NC_000004.12:56930291:G:A,NC_000004.12:56930291:G:T
Gene:: REST (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930292G>A, NC_000004.12:g.56930292G>T, NC_000004.11:g.57796458G>A, NC_000004.11:g.57796458G>T, NG_029447.1:g.27417G>A, NG_029447.1:g.27417G>T, NM_005612.5:c.1434G>A, NM_005612.5:c.1434G>T, NM_005612.4:c.1434G>A, NM_005612.4:c.1434G>T, NM_001363453.2:c.1434G>A, NM_001363453.2:c.1434G>T, NM_001363453.1:c.1434G>A, NM_001363453.1:c.1434G>T, NM_001193508.1:c.1434G>A, NM_001193508.1:c.1434G>T, XM_017008527.2:c.1350G>A, XM_017008527.2:c.1350G>T, XM_017008527.1:c.1350G>A, XM_017008527.1:c.1350G>T, XM_047416053.1:c.1350G>A, XM_047416053.1:c.1350G>T, NP_005603.3:p.Lys478Asn, NP_001350382.1:p.Lys478Asn, NP_001180437.1:p.Lys478Asn, XP_016864016.1:p.Lys450Asn, XP_047272009.1:p.Lys450Asn

Select item 14885308104.

rs1488530810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56911458 (GRCh38)
4:57777624 (GRCh37)
Canonical SPDI:: NC_000004.12:56911457:A:G
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56911458A>G, NC_000004.11:g.57777624A>G, NG_029447.1:g.8583A>G, NM_005612.5:c.820A>G, NM_005612.4:c.820A>G, NM_001363453.2:c.820A>G, NM_001363453.1:c.820A>G, NM_001193508.1:c.820A>G, XM_017008527.2:c.820A>G, XM_017008527.1:c.820A>G, XM_047416053.1:c.820A>G, NP_005603.3:p.Lys274Glu, NP_001350382.1:p.Lys274Glu, NP_001180437.1:p.Lys274Glu, XP_016864016.1:p.Lys274Glu, XP_047272009.1:p.Lys274Glu

Select item 14882680005.

rs1488268000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56911321 (GRCh38)
4:57777487 (GRCh37)
Canonical SPDI:: NC_000004.12:56911320:A:G
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.56911321A>G, NC_000004.11:g.57777487A>G, NG_029447.1:g.8446A>G, NM_005612.5:c.683A>G, NM_005612.4:c.683A>G, NM_001363453.2:c.683A>G, NM_001363453.1:c.683A>G, NM_001193508.1:c.683A>G, XM_017008527.2:c.683A>G, XM_017008527.1:c.683A>G, XM_047416053.1:c.683A>G, NP_005603.3:p.Tyr228Cys, NP_001350382.1:p.Tyr228Cys, NP_001180437.1:p.Tyr228Cys, XP_016864016.1:p.Tyr228Cys, XP_047272009.1:p.Tyr228Cys

Select item 14879283066.

rs1487928306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56930337 (GRCh38)
4:57796503 (GRCh37)
Canonical SPDI:: NC_000004.12:56930336:A:G
Gene:: REST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0011/18 (TOMMO)
HGVS:: NC_000004.12:g.56930337A>G, NC_000004.11:g.57796503A>G, NG_029447.1:g.27462A>G, NM_005612.5:c.1479A>G, NM_005612.4:c.1479A>G, NM_001363453.2:c.1479A>G, NM_001363453.1:c.1479A>G, NM_001193508.1:c.1479A>G, XM_017008527.2:c.1395A>G, XM_017008527.1:c.1395A>G, XM_047416053.1:c.1395A>G

Select item 14859459847.

rs1485945984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:56930962 (GRCh38)
4:57797128 (GRCh37)
Canonical SPDI:: NC_000004.12:56930961:G:C
Gene:: REST (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930962G>C, NC_000004.11:g.57797128G>C, NG_029447.1:g.28087G>C, NM_005612.5:c.2104G>C, NM_005612.4:c.2104G>C, NM_001363453.2:c.2104G>C, NM_001363453.1:c.2104G>C, NM_001193508.1:c.2104G>C, XM_017008527.2:c.2020G>C, XM_017008527.1:c.2020G>C, XM_047416053.1:c.2020G>C, NP_005603.3:p.Gly702Arg, NP_001350382.1:p.Gly702Arg, NP_001180437.1:p.Gly702Arg, XP_016864016.1:p.Gly674Arg, XP_047272009.1:p.Gly674Arg

Select item 14842065968.

rs1484206596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56930583 (GRCh38)
4:57796749 (GRCh37)
Canonical SPDI:: NC_000004.12:56930582:G:A
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56930583G>A, NC_000004.11:g.57796749G>A, NG_029447.1:g.27708G>A, NM_005612.5:c.1725G>A, NM_005612.4:c.1725G>A, NM_001363453.2:c.1725G>A, NM_001363453.1:c.1725G>A, NM_001193508.1:c.1725G>A, XM_017008527.2:c.1641G>A, XM_017008527.1:c.1641G>A, XM_047416053.1:c.1641G>A, NP_005603.3:p.Met575Ile, NP_001350382.1:p.Met575Ile, NP_001180437.1:p.Met575Ile, XP_016864016.1:p.Met547Ile, XP_047272009.1:p.Met547Ile

Select item 14839863559.

rs1483986355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56930423 (GRCh38)
4:57796589 (GRCh37)
Canonical SPDI:: NC_000004.12:56930422:A:G
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930423A>G, NC_000004.11:g.57796589A>G, NG_029447.1:g.27548A>G, NM_005612.5:c.1565A>G, NM_005612.4:c.1565A>G, NM_001363453.2:c.1565A>G, NM_001363453.1:c.1565A>G, NM_001193508.1:c.1565A>G, XM_017008527.2:c.1481A>G, XM_017008527.1:c.1481A>G, XM_047416053.1:c.1481A>G, NP_005603.3:p.Lys522Arg, NP_001350382.1:p.Lys522Arg, NP_001180437.1:p.Lys522Arg, XP_016864016.1:p.Lys494Arg, XP_047272009.1:p.Lys494Arg

Select item 148384306910.

rs1483843069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56931642 (GRCh38)
4:57797808 (GRCh37)
Canonical SPDI:: NC_000004.12:56931641:G:A
Gene:: REST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56931642G>A, NC_000004.11:g.57797808G>A, NG_029447.1:g.28767G>A, NM_005612.5:c.2784G>A, NM_005612.4:c.2784G>A, NM_001363453.2:c.2784G>A, NM_001363453.1:c.2784G>A, NM_001193508.1:c.2784G>A, XM_017008527.2:c.2700G>A, XM_017008527.1:c.2700G>A, XM_047416053.1:c.2700G>A

Select item 148375295711.

rs1483752957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:56911116 (GRCh38)
4:57777282 (GRCh37)
Canonical SPDI:: NC_000004.12:56911115:C:T
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56911116C>T, NC_000004.11:g.57777282C>T, NG_029447.1:g.8241C>T, NM_005612.5:c.478C>T, NM_005612.4:c.478C>T, NM_001363453.2:c.478C>T, NM_001363453.1:c.478C>T, NM_001193508.1:c.478C>T, XM_017008527.2:c.478C>T, XM_017008527.1:c.478C>T, XM_047416053.1:c.478C>T, NP_005603.3:p.Arg160Cys, NP_001350382.1:p.Arg160Cys, NP_001180437.1:p.Arg160Cys, XP_016864016.1:p.Arg160Cys, XP_047272009.1:p.Arg160Cys

Select item 148368466212.

rs1483684662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:56931790 (GRCh38)
4:57797956 (GRCh37)
Canonical SPDI:: NC_000004.12:56931789:G:T
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.56931790G>T, NC_000004.11:g.57797956G>T, NG_029447.1:g.28915G>T, NM_005612.5:c.2932G>T, NM_005612.4:c.2932G>T, NM_001363453.2:c.2932G>T, NM_001363453.1:c.2932G>T, NM_001193508.1:c.2932G>T, XM_017008527.2:c.2848G>T, XM_017008527.1:c.2848G>T, XM_047416053.1:c.2848G>T, NP_005603.3:p.Ala978Ser, NP_001350382.1:p.Ala978Ser, NP_001180437.1:p.Ala978Ser, XP_016864016.1:p.Ala950Ser, XP_047272009.1:p.Ala950Ser

Select item 148205223413.

rs1482052234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:56931505 (GRCh38)
4:57797671 (GRCh37)
Canonical SPDI:: NC_000004.12:56931504:C:A,NC_000004.12:56931504:C:T
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56931505C>A, NC_000004.12:g.56931505C>T, NC_000004.11:g.57797671C>A, NC_000004.11:g.57797671C>T, NG_029447.1:g.28630C>A, NG_029447.1:g.28630C>T, NM_005612.5:c.2647C>A, NM_005612.5:c.2647C>T, NM_005612.4:c.2647C>A, NM_005612.4:c.2647C>T, NM_001363453.2:c.2647C>A, NM_001363453.2:c.2647C>T, NM_001363453.1:c.2647C>A, NM_001363453.1:c.2647C>T, NM_001193508.1:c.2647C>A, NM_001193508.1:c.2647C>T, XM_017008527.2:c.2563C>A, XM_017008527.2:c.2563C>T, XM_017008527.1:c.2563C>A, XM_017008527.1:c.2563C>T, XM_047416053.1:c.2563C>A, XM_047416053.1:c.2563C>T, NP_005603.3:p.Leu883Ile, NP_005603.3:p.Leu883Phe, NP_001350382.1:p.Leu883Ile, NP_001350382.1:p.Leu883Phe, NP_001180437.1:p.Leu883Ile, NP_001180437.1:p.Leu883Phe, XP_016864016.1:p.Leu855Ile, XP_016864016.1:p.Leu855Phe, XP_047272009.1:p.Leu855Ile, XP_047272009.1:p.Leu855Phe

Select item 148159208814.

rs1481592088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:56930592 (GRCh38)
4:57796758 (GRCh37)
Canonical SPDI:: NC_000004.12:56930591:T:A
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930592T>A, NC_000004.11:g.57796758T>A, NG_029447.1:g.27717T>A, NM_005612.5:c.1734T>A, NM_005612.4:c.1734T>A, NM_001363453.2:c.1734T>A, NM_001363453.1:c.1734T>A, NM_001193508.1:c.1734T>A, XM_017008527.2:c.1650T>A, XM_017008527.1:c.1650T>A, XM_047416053.1:c.1650T>A, NP_005603.3:p.Ser578Arg, NP_001350382.1:p.Ser578Arg, NP_001180437.1:p.Ser578Arg, XP_016864016.1:p.Ser550Arg, XP_047272009.1:p.Ser550Arg

Select item 148148173115.

rs1481481731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56931153 (GRCh38)
4:57797319 (GRCh37)
Canonical SPDI:: NC_000004.12:56931152:G:A
Gene:: REST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.56931153G>A, NC_000004.11:g.57797319G>A, NG_029447.1:g.28278G>A, NM_005612.5:c.2295G>A, NM_005612.4:c.2295G>A, NM_001363453.2:c.2295G>A, NM_001363453.1:c.2295G>A, NM_001193508.1:c.2295G>A, XM_017008527.2:c.2211G>A, XM_017008527.1:c.2211G>A, XM_047416053.1:c.2211G>A

Select item 148119216916.

rs1481192169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56932084 (GRCh38)
4:57798250 (GRCh37)
Canonical SPDI:: NC_000004.12:56932083:A:G
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56932084A>G, NC_000004.11:g.57798250A>G, NG_029447.1:g.29209A>G, NM_005612.5:c.3226A>G, NM_005612.4:c.3226A>G, NM_001363453.2:c.3226A>G, NM_001363453.1:c.3226A>G, NM_001193508.1:c.3226A>G, XM_017008527.2:c.3142A>G, XM_017008527.1:c.3142A>G, XM_047416053.1:c.3142A>G, NP_005603.3:p.Ser1076Gly, NP_001350382.1:p.Ser1076Gly, NP_001180437.1:p.Ser1076Gly, XP_016864016.1:p.Ser1048Gly, XP_047272009.1:p.Ser1048Gly

Select item 148000054417.

rs1480000544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:56930325 (GRCh38)
4:57796491 (GRCh37)
Canonical SPDI:: NC_000004.12:56930324:T:G
Gene:: REST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000004.12:g.56930325T>G, NC_000004.11:g.57796491T>G, NG_029447.1:g.27450T>G, NM_005612.5:c.1467T>G, NM_005612.4:c.1467T>G, NM_001363453.2:c.1467T>G, NM_001363453.1:c.1467T>G, NM_001193508.1:c.1467T>G, XM_017008527.2:c.1383T>G, XM_017008527.1:c.1383T>G, XM_047416053.1:c.1383T>G

Select item 147957530318.

rs1479575303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56930895 (GRCh38)
4:57797061 (GRCh37)
Canonical SPDI:: NC_000004.12:56930894:A:G
Gene:: REST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930895A>G, NC_000004.11:g.57797061A>G, NG_029447.1:g.28020A>G, NM_005612.5:c.2037A>G, NM_005612.4:c.2037A>G, NM_001363453.2:c.2037A>G, NM_001363453.1:c.2037A>G, NM_001193508.1:c.2037A>G, XM_017008527.2:c.1953A>G, XM_017008527.1:c.1953A>G, XM_047416053.1:c.1953A>G

Select item 147924929119.

rs1479249291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:56919845 (GRCh38)
4:57786011 (GRCh37)
Canonical SPDI:: NC_000004.12:56919844:A:C
Gene:: REST (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56919845A>C, NC_000004.11:g.57786011A>C, NG_029447.1:g.16970A>C, NM_005612.5:c.957A>C, NM_005612.4:c.957A>C, NM_001363453.2:c.957A>C, NM_001363453.1:c.957A>C, NM_001193508.1:c.957A>C

Select item 147728185520.

rs1477281855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56910909 (GRCh38)
4:57777075 (GRCh37)
Canonical SPDI:: NC_000004.12:56910908:G:A
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56910909G>A, NC_000004.11:g.57777075G>A, NG_029447.1:g.8034G>A, NM_005612.5:c.271G>A, NM_005612.4:c.271G>A, NM_001363453.2:c.271G>A, NM_001363453.1:c.271G>A, NM_001193508.1:c.271G>A, XM_017008527.2:c.271G>A, XM_017008527.1:c.271G>A, XM_047416053.1:c.271G>A, NP_005603.3:p.Glu91Lys, NP_001350382.1:p.Glu91Lys, NP_001180437.1:p.Glu91Lys, XP_016864016.1:p.Glu91Lys, XP_047272009.1:p.Glu91Lys

dbSNP

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