SNP Links for Protein (Select 39777586) - SNP

Select item 14891713221.

rs1489171322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:38858662 (GRCh38)
2:39085804 (GRCh37)
Canonical SPDI:: NC_000002.12:38858661:T:C
Gene:: DHX57 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38858662T>C, NC_000002.11:g.39085804T>C, XM_011533156.4:c.1586A>G, XM_011533156.3:c.1586A>G, XM_011533156.2:c.1586A>G, XM_011533156.1:c.1586A>G, XM_011533154.3:c.1586A>G, XM_011533154.2:c.1586A>G, XM_011533154.1:c.1586A>G, XM_011533155.3:c.1586A>G, XM_011533155.2:c.1586A>G, XM_011533155.1:c.1586A>G, NM_198963.3:c.1586A>G, NM_198963.2:c.1586A>G, NM_198963.1:c.1586A>G, NM_145646.2:c.1280A>G, NM_144995.2:c.1280A>G, NM_001329963.1:c.1280A>G, XM_024453215.1:c.1280A>G, XM_047446268.1:c.1586A>G, XM_047446269.1:c.1586A>G, NM_144995.1:c.1280A>G, NM_145646.1:c.8A>G, XP_011531458.1:p.Gln529Arg, XP_011531456.1:p.Gln529Arg, XP_011531457.1:p.Gln529Arg, NP_945314.1:p.Gln529Arg, NP_001316892.1:p.Gln427Arg, XP_024308983.1:p.Gln427Arg, XP_047302224.1:p.Gln529Arg, XP_047302225.1:p.Gln529Arg

Select item 14890532352.

rs1489053235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38826563 (GRCh38)
2:39053705 (GRCh37)
Canonical SPDI:: NC_000002.12:38826562:G:A
Gene:: DHX57 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.38826563G>A, NC_000002.11:g.39053705G>A, XM_011533156.4:c.2766C>T, XM_011533156.3:c.2766C>T, XM_011533156.2:c.2766C>T, XM_011533156.1:c.2766C>T, XM_011533154.3:c.2766C>T, XM_011533154.2:c.2766C>T, XM_011533154.1:c.2766C>T, XM_011533155.3:c.2766C>T, XM_011533155.2:c.2766C>T, XM_011533155.1:c.2766C>T, NM_198963.3:c.2766C>T, NM_198963.2:c.2766C>T, NM_198963.1:c.2766C>T, NM_145646.2:c.*1064C>T, NM_001329963.1:c.2460C>T, XM_024453215.1:c.2460C>T, XM_047446268.1:c.2766C>T, XM_047446269.1:c.*65C>T, NM_145646.1:c.1188C>T

Select item 14882253953.

rs1488225395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:38843196 (GRCh38)
2:39070338 (GRCh37)
Canonical SPDI:: NC_000002.12:38843195:T:C
Gene:: DHX57 (Varview), LOC105374470 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38843196T>C, NC_000002.11:g.39070338T>C, XM_011533156.4:c.2234A>G, XM_011533156.3:c.2234A>G, XM_011533156.2:c.2234A>G, XM_011533156.1:c.2234A>G, XM_011533154.3:c.2234A>G, XM_011533154.2:c.2234A>G, XM_011533154.1:c.2234A>G, XM_011533155.3:c.2234A>G, XM_011533155.2:c.2234A>G, XM_011533155.1:c.2234A>G, NM_198963.3:c.2234A>G, NM_198963.2:c.2234A>G, NM_198963.1:c.2234A>G, NM_145646.2:c.*532A>G, NM_001329963.1:c.1928A>G, XM_024453215.1:c.1928A>G, XM_047446268.1:c.2234A>G, XM_047446269.1:c.2234A>G, NM_145646.1:c.656A>G, XP_011531458.1:p.Asp745Gly, XP_011531456.1:p.Asp745Gly, XP_011531457.1:p.Asp745Gly, NP_945314.1:p.Asp745Gly, NP_001316892.1:p.Asp643Gly, XP_024308983.1:p.Asp643Gly, XP_047302224.1:p.Asp745Gly, XP_047302225.1:p.Asp745Gly

Select item 14881686564.

rs1488168656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38826618 (GRCh38)
2:39053760 (GRCh37)
Canonical SPDI:: NC_000002.12:38826617:G:A,NC_000002.12:38826617:G:C
Gene:: DHX57 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38826618G>A, NC_000002.12:g.38826618G>C, NC_000002.11:g.39053760G>A, NC_000002.11:g.39053760G>C, XM_011533156.4:c.2711C>T, XM_011533156.4:c.2711C>G, XM_011533156.3:c.2711C>T, XM_011533156.3:c.2711C>G, XM_011533156.2:c.2711C>T, XM_011533156.2:c.2711C>G, XM_011533156.1:c.2711C>T, XM_011533156.1:c.2711C>G, XM_011533154.3:c.2711C>T, XM_011533154.3:c.2711C>G, XM_011533154.2:c.2711C>T, XM_011533154.2:c.2711C>G, XM_011533154.1:c.2711C>T, XM_011533154.1:c.2711C>G, XM_011533155.3:c.2711C>T, XM_011533155.3:c.2711C>G, XM_011533155.2:c.2711C>T, XM_011533155.2:c.2711C>G, XM_011533155.1:c.2711C>T, XM_011533155.1:c.2711C>G, NM_198963.3:c.2711C>T, NM_198963.3:c.2711C>G, NM_198963.2:c.2711C>T, NM_198963.2:c.2711C>G, NM_198963.1:c.2711C>T, NM_198963.1:c.2711C>G, NM_145646.2:c.*1009C>T, NM_145646.2:c.*1009C>G, NM_001329963.1:c.2405C>T, NM_001329963.1:c.2405C>G, XM_024453215.1:c.2405C>T, XM_024453215.1:c.2405C>G, XM_047446268.1:c.2711C>T, XM_047446268.1:c.2711C>G, XM_047446269.1:c.*10C>T, XM_047446269.1:c.*10C>G, NM_145646.1:c.1133C>T, NM_145646.1:c.1133C>G, XP_011531458.1:p.Ala904Val, XP_011531458.1:p.Ala904Gly, XP_011531456.1:p.Ala904Val, XP_011531456.1:p.Ala904Gly, XP_011531457.1:p.Ala904Val, XP_011531457.1:p.Ala904Gly, NP_945314.1:p.Ala904Val, NP_945314.1:p.Ala904Gly, NP_001316892.1:p.Ala802Val, NP_001316892.1:p.Ala802Gly, XP_024308983.1:p.Ala802Val, XP_024308983.1:p.Ala802Gly, XP_047302224.1:p.Ala904Val, XP_047302224.1:p.Ala904Gly

Select item 14865511235.

rs1486551123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38828383 (GRCh38)
2:39055525 (GRCh37)
Canonical SPDI:: NC_000002.12:38828382:G:A
Gene:: DHX57 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000156/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38828383G>A, NC_000002.11:g.39055525G>A, XM_011533156.4:c.2596C>T, XM_011533156.3:c.2596C>T, XM_011533156.2:c.2596C>T, XM_011533156.1:c.2596C>T, XM_011533154.3:c.2596C>T, XM_011533154.2:c.2596C>T, XM_011533154.1:c.2596C>T, XM_011533155.3:c.2596C>T, XM_011533155.2:c.2596C>T, XM_011533155.1:c.2596C>T, NM_198963.3:c.2596C>T, NM_198963.2:c.2596C>T, NM_198963.1:c.2596C>T, NM_145646.2:c.*894C>T, NM_001329963.1:c.2290C>T, XM_024453215.1:c.2290C>T, XM_047446268.1:c.2596C>T, NM_145646.1:c.1018C>T, XP_011531458.1:p.Gln866Ter, XP_011531456.1:p.Gln866Ter, XP_011531457.1:p.Gln866Ter, NP_945314.1:p.Gln866Ter, NP_001316892.1:p.Gln764Ter, XP_024308983.1:p.Gln764Ter, XP_047302224.1:p.Gln866Ter

Select item 14863797636.

rs1486379763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38813849 (GRCh38)
2:39040991 (GRCh37)
Canonical SPDI:: NC_000002.12:38813848:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38813849C>T, NC_000002.11:g.39040991C>T, XM_011533156.4:c.3653G>A, XM_011533156.3:c.3653G>A, XM_011533156.2:c.3653G>A, XM_011533156.1:c.3653G>A, XM_011533154.3:c.3653G>A, XM_011533154.2:c.3653G>A, XM_011533154.1:c.3653G>A, XM_011533155.3:c.3653G>A, XM_011533155.2:c.3653G>A, XM_011533155.1:c.3653G>A, NM_198963.3:c.3653G>A, NM_198963.2:c.3653G>A, NM_198963.1:c.3653G>A, NM_145646.2:c.*1951G>A, NM_001329963.1:c.3347G>A, XM_024453215.1:c.3347G>A, NM_145646.1:c.2075G>A, XP_011531458.1:p.Cys1218Tyr, XP_011531456.1:p.Cys1218Tyr, XP_011531457.1:p.Cys1218Tyr, NP_945314.1:p.Cys1218Tyr, NP_001316892.1:p.Cys1116Tyr, XP_024308983.1:p.Cys1116Tyr

Select item 14857868187.

rs1485786818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:38848302 (GRCh38)
2:39075444 (GRCh37)
Canonical SPDI:: NC_000002.12:38848301:A:T
Gene:: DHX57 (Varview), LOC105374470 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38848302A>T, NC_000002.11:g.39075444A>T, XM_011533156.4:c.2131T>A, XM_011533156.3:c.2131T>A, XM_011533156.2:c.2131T>A, XM_011533156.1:c.2131T>A, XM_011533154.3:c.2131T>A, XM_011533154.2:c.2131T>A, XM_011533154.1:c.2131T>A, XM_011533155.3:c.2131T>A, XM_011533155.2:c.2131T>A, XM_011533155.1:c.2131T>A, NM_198963.3:c.2131T>A, NM_198963.2:c.2131T>A, NM_198963.1:c.2131T>A, NM_145646.2:c.*429T>A, NM_001329963.1:c.1825T>A, XM_024453215.1:c.1825T>A, XM_047446268.1:c.2131T>A, XM_047446269.1:c.2131T>A, NM_145646.1:c.553T>A, XP_011531458.1:p.Tyr711Asn, XP_011531456.1:p.Tyr711Asn, XP_011531457.1:p.Tyr711Asn, NP_945314.1:p.Tyr711Asn, NP_001316892.1:p.Tyr609Asn, XP_024308983.1:p.Tyr609Asn, XP_047302224.1:p.Tyr711Asn, XP_047302225.1:p.Tyr711Asn

Select item 14853847478.

rs1485384747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38802907 (GRCh38)
2:39030049 (GRCh37)
Canonical SPDI:: NC_000002.12:38802906:G:A
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38802907G>A, NC_000002.11:g.39030049G>A, XM_011533156.4:c.3825C>T, XM_011533156.3:c.3825C>T, XM_011533156.2:c.3825C>T, XM_011533156.1:c.3825C>T, XM_011533154.3:c.3825C>T, XM_011533154.2:c.3825C>T, XM_011533154.1:c.3825C>T, XM_011533155.3:c.3825C>T, XM_011533155.2:c.3825C>T, XM_011533155.1:c.3825C>T, NM_198963.3:c.3825C>T, NM_198963.2:c.3825C>T, NM_198963.1:c.3825C>T, NM_145646.2:c.*2123C>T, NM_001329963.1:c.3519C>T, XM_024453215.1:c.3519C>T, NM_145646.1:c.2247C>T

Select item 14852910559.

rs1485291055 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:38856437 (GRCh38)
2:39083580 (GRCh37)
Canonical SPDI:: NC_000002.12:38856437:AA:AAA
Gene:: DHX57 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38856439dup, NC_000002.11:g.39083581dup, XM_011533156.4:c.1611dup, XM_011533156.3:c.1611dup, XM_011533156.2:c.1611dup, XM_011533156.1:c.1611dup, XM_011533154.3:c.1611dup, XM_011533154.2:c.1611dup, XM_011533154.1:c.1611dup, XM_011533155.3:c.1611dup, XM_011533155.2:c.1611dup, XM_011533155.1:c.1611dup, NM_198963.3:c.1611dup, NM_198963.2:c.1611dup, NM_198963.1:c.1611dup, NM_145646.2:c.1305dup, NM_001329963.1:c.1305dup, XM_024453215.1:c.1305dup, XM_047446268.1:c.1611dup, XM_047446269.1:c.1611dup, NM_145646.1:c.33dup, XP_011531458.1:p.Leu538fs, XP_011531456.1:p.Leu538fs, XP_011531457.1:p.Leu538fs, NP_945314.1:p.Leu538fs, NP_001316892.1:p.Leu436fs, XP_024308983.1:p.Leu436fs, XP_047302224.1:p.Leu538fs, XP_047302225.1:p.Leu538fs

Select item 148523089810.

rs1485230898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:38863413 (GRCh38)
2:39090555 (GRCh37)
Canonical SPDI:: NC_000002.12:38863412:C:G
Gene:: DHX57 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38863413C>G, NC_000002.11:g.39090555C>G, XM_011533156.4:c.331G>C, XM_011533156.3:c.331G>C, XM_011533156.2:c.331G>C, XM_011533156.1:c.331G>C, XM_011533154.3:c.331G>C, XM_011533154.2:c.331G>C, XM_011533154.1:c.331G>C, XM_011533155.3:c.331G>C, XM_011533155.2:c.331G>C, XM_011533155.1:c.331G>C, NM_198963.3:c.331G>C, NM_198963.2:c.331G>C, NM_198963.1:c.331G>C, NM_145646.2:c.25G>C, NM_144995.2:c.25G>C, NM_001329963.1:c.25G>C, XM_024453215.1:c.25G>C, XM_047446268.1:c.331G>C, XM_047446269.1:c.331G>C, NM_144995.1:c.25G>C, XP_011531458.1:p.Val111Leu, XP_011531456.1:p.Val111Leu, XP_011531457.1:p.Val111Leu, NP_945314.1:p.Val111Leu, NP_001316892.1:p.Val9Leu, XP_024308983.1:p.Val9Leu, XP_047302224.1:p.Val111Leu, XP_047302225.1:p.Val111Leu

Select item 148448171811.

rs1484481718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:38861536 (GRCh38)
2:39088678 (GRCh37)
Canonical SPDI:: NC_000002.12:38861535:C:A,NC_000002.12:38861535:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.38861536C>A, NC_000002.12:g.38861536C>T, NC_000002.11:g.39088678C>A, NC_000002.11:g.39088678C>T, XM_011533156.4:c.874G>T, XM_011533156.4:c.874G>A, XM_011533156.3:c.874G>T, XM_011533156.3:c.874G>A, XM_011533156.2:c.874G>T, XM_011533156.2:c.874G>A, XM_011533156.1:c.874G>T, XM_011533156.1:c.874G>A, XM_011533154.3:c.874G>T, XM_011533154.3:c.874G>A, XM_011533154.2:c.874G>T, XM_011533154.2:c.874G>A, XM_011533154.1:c.874G>T, XM_011533154.1:c.874G>A, XM_011533155.3:c.874G>T, XM_011533155.3:c.874G>A, XM_011533155.2:c.874G>T, XM_011533155.2:c.874G>A, XM_011533155.1:c.874G>T, XM_011533155.1:c.874G>A, NM_198963.3:c.874G>T, NM_198963.3:c.874G>A, NM_198963.2:c.874G>T, NM_198963.2:c.874G>A, NM_198963.1:c.874G>T, NM_198963.1:c.874G>A, NM_145646.2:c.568G>T, NM_145646.2:c.568G>A, NM_144995.2:c.568G>T, NM_144995.2:c.568G>A, NM_001329963.1:c.568G>T, NM_001329963.1:c.568G>A, XM_024453215.1:c.568G>T, XM_024453215.1:c.568G>A, XM_047446268.1:c.874G>T, XM_047446268.1:c.874G>A, XM_047446269.1:c.874G>T, XM_047446269.1:c.874G>A, NM_144995.1:c.568G>T, NM_144995.1:c.568G>A, XP_011531458.1:p.Glu292Ter, XP_011531458.1:p.Glu292Lys, XP_011531456.1:p.Glu292Ter, XP_011531456.1:p.Glu292Lys, XP_011531457.1:p.Glu292Ter, XP_011531457.1:p.Glu292Lys, NP_945314.1:p.Glu292Ter, NP_945314.1:p.Glu292Lys, NP_001316892.1:p.Glu190Ter, NP_001316892.1:p.Glu190Lys, XP_024308983.1:p.Glu190Ter, XP_024308983.1:p.Glu190Lys, XP_047302224.1:p.Glu292Ter, XP_047302224.1:p.Glu292Lys, XP_047302225.1:p.Glu292Ter, XP_047302225.1:p.Glu292Lys

Select item 148411549712.

rs1484115497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:38825964 (GRCh38)
2:39053106 (GRCh37)
Canonical SPDI:: NC_000002.12:38825963:C:G
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38825964C>G, NC_000002.11:g.39053106C>G, XM_011533156.4:c.2897G>C, XM_011533156.3:c.2897G>C, XM_011533156.2:c.2897G>C, XM_011533156.1:c.2897G>C, XM_011533154.3:c.2897G>C, XM_011533154.2:c.2897G>C, XM_011533154.1:c.2897G>C, XM_011533155.3:c.2897G>C, XM_011533155.2:c.2897G>C, XM_011533155.1:c.2897G>C, NM_198963.3:c.2897G>C, NM_198963.2:c.2897G>C, NM_198963.1:c.2897G>C, NM_145646.2:c.*1195G>C, NM_001329963.1:c.2591G>C, XM_024453215.1:c.2591G>C, XM_047446268.1:c.2897G>C, NM_145646.1:c.1319G>C, XP_011531458.1:p.Gly966Ala, XP_011531456.1:p.Gly966Ala, XP_011531457.1:p.Gly966Ala, NP_945314.1:p.Gly966Ala, NP_001316892.1:p.Gly864Ala, XP_024308983.1:p.Gly864Ala, XP_047302224.1:p.Gly966Ala

Select item 148299594913.

rs1482995949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCACCTCCACC [Show Flanks]
Chromosome:: 2:38868259 (GRCh38)
2:39095402 (GRCh37)
Canonical SPDI:: NC_000002.12:38868259:CCGCCACCTCCACC:CCGCCACCTCCACCGCCACCTCCACC
Gene:: DHX57 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,inframe_insertion,intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCCACCTCCACCGCCACCTCCACC=0./0 (ALFA)
CCGCCACCTCCA=0.00048/6 (GoESP)
HGVS:: NC_000002.12:g.38868262_38868273dup, NC_000002.11:g.39095404_39095415dup, XM_011533156.4:c.135_146dup, XM_011533156.3:c.135_146dup, XM_011533156.2:c.135_146dup, XM_011533156.1:c.135_146dup, XM_011533154.3:c.135_146dup, XM_011533154.2:c.135_146dup, XM_011533154.1:c.135_146dup, XM_011533155.3:c.135_146dup, XM_011533155.2:c.135_146dup, XM_011533155.1:c.135_146dup, NM_198963.3:c.135_146dup, NM_198963.2:c.135_146dup, NM_198963.1:c.135_146dup, XM_047446268.1:c.135_146dup, XM_047446269.1:c.135_146dup, XP_011531458.1:p.Gly46_Gly49dup, XP_011531456.1:p.Gly46_Gly49dup, XP_011531457.1:p.Gly46_Gly49dup, NP_945314.1:p.Gly46_Gly49dup, XP_047302224.1:p.Gly46_Gly49dup, XP_047302225.1:p.Gly46_Gly49dup

Select item 148212786514.

rs1482127865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:38861043 (GRCh38)
2:39088185 (GRCh37)
Canonical SPDI:: NC_000002.12:38861042:G:A
Gene:: DHX57 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.38861043G>A, NC_000002.11:g.39088185G>A, XM_011533156.4:c.1367C>T, XM_011533156.3:c.1367C>T, XM_011533156.2:c.1367C>T, XM_011533156.1:c.1367C>T, XM_011533154.3:c.1367C>T, XM_011533154.2:c.1367C>T, XM_011533154.1:c.1367C>T, XM_011533155.3:c.1367C>T, XM_011533155.2:c.1367C>T, XM_011533155.1:c.1367C>T, NM_198963.3:c.1367C>T, NM_198963.2:c.1367C>T, NM_198963.1:c.1367C>T, NM_145646.2:c.1061C>T, NM_144995.2:c.1061C>T, NM_001329963.1:c.1061C>T, XM_024453215.1:c.1061C>T, XM_047446268.1:c.1367C>T, XM_047446269.1:c.1367C>T, NM_144995.1:c.1061C>T, NM_145646.1:c.-212C>T, XP_011531458.1:p.Thr456Ile, XP_011531456.1:p.Thr456Ile, XP_011531457.1:p.Thr456Ile, NP_945314.1:p.Thr456Ile, NP_001316892.1:p.Thr354Ile, XP_024308983.1:p.Thr354Ile, XP_047302224.1:p.Thr456Ile, XP_047302225.1:p.Thr456Ile

Select item 148211682615.

rs1482116826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38823078 (GRCh38)
2:39050220 (GRCh37)
Canonical SPDI:: NC_000002.12:38823077:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38823078C>T, NC_000002.11:g.39050220C>T, XM_011533156.4:c.3206G>A, XM_011533156.3:c.3206G>A, XM_011533156.2:c.3206G>A, XM_011533156.1:c.3206G>A, XM_011533154.3:c.3206G>A, XM_011533154.2:c.3206G>A, XM_011533154.1:c.3206G>A, XM_011533155.3:c.3206G>A, XM_011533155.2:c.3206G>A, XM_011533155.1:c.3206G>A, NM_198963.3:c.3206G>A, NM_198963.2:c.3206G>A, NM_198963.1:c.3206G>A, NM_145646.2:c.*1504G>A, NM_001329963.1:c.2900G>A, XM_024453215.1:c.2900G>A, XM_047446268.1:c.3206G>A, NM_145646.1:c.1628G>A, XP_011531458.1:p.Gly1069Asp, XP_011531456.1:p.Gly1069Asp, XP_011531457.1:p.Gly1069Asp, NP_945314.1:p.Gly1069Asp, NP_001316892.1:p.Gly967Asp, XP_024308983.1:p.Gly967Asp, XP_047302224.1:p.Gly1069Asp

Select item 148087541516.

rs1480875415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:38837862 (GRCh38)
2:39065004 (GRCh37)
Canonical SPDI:: NC_000002.12:38837861:C:G
Gene:: DHX57 (Varview), LOC105374470 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.38837862C>G, NC_000002.11:g.39065004C>G, XM_011533156.4:c.2511G>C, XM_011533156.3:c.2511G>C, XM_011533156.2:c.2511G>C, XM_011533156.1:c.2511G>C, XM_011533154.3:c.2511G>C, XM_011533154.2:c.2511G>C, XM_011533154.1:c.2511G>C, XM_011533155.3:c.2511G>C, XM_011533155.2:c.2511G>C, XM_011533155.1:c.2511G>C, NM_198963.3:c.2511G>C, NM_198963.2:c.2511G>C, NM_198963.1:c.2511G>C, NM_145646.2:c.*809G>C, NM_001329963.1:c.2205G>C, XM_024453215.1:c.2205G>C, XM_047446268.1:c.2511G>C, XM_047446269.1:c.2511G>C, NM_145646.1:c.933G>C, XP_011531458.1:p.Trp837Cys, XP_011531456.1:p.Trp837Cys, XP_011531457.1:p.Trp837Cys, NP_945314.1:p.Trp837Cys, NP_001316892.1:p.Trp735Cys, XP_024308983.1:p.Trp735Cys, XP_047302224.1:p.Trp837Cys, XP_047302225.1:p.Trp837Cys

Select item 148078041917.

rs1480780419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:38798299 (GRCh38)
2:39025441 (GRCh37)
Canonical SPDI:: NC_000002.12:38798298:T:C
Gene:: DHX57 (Varview)
Functional Consequence:: terminator_codon_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38798299T>C, NC_000002.11:g.39025441T>C, XM_011533156.4:c.*144A>G, XM_011533156.3:c.*144A>G, XM_011533154.3:c.4161A>G, XM_011533154.2:c.4161A>G, XM_011533154.1:c.4161A>G, XM_011533155.3:c.4161A>G, XM_011533155.2:c.4161A>G, XM_011533155.1:c.4161A>G, NM_198963.3:c.4161A>G, NM_198963.2:c.4161A>G, NM_198963.1:c.4161A>G, NM_145646.2:c.*2459A>G, NM_001329963.1:c.3855A>G, XM_024453215.1:c.3855A>G, NM_145646.1:c.2583A>G

Select item 148013172418.

rs1480131724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38806654 (GRCh38)
2:39033796 (GRCh37)
Canonical SPDI:: NC_000002.12:38806653:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000002.12:g.38806654C>T, NC_000002.11:g.39033796C>T, XM_011533156.4:c.3721G>A, XM_011533156.3:c.3721G>A, XM_011533156.2:c.3721G>A, XM_011533156.1:c.3721G>A, XM_011533154.3:c.3721G>A, XM_011533154.2:c.3721G>A, XM_011533154.1:c.3721G>A, XM_011533155.3:c.3721G>A, XM_011533155.2:c.3721G>A, XM_011533155.1:c.3721G>A, NM_198963.3:c.3721G>A, NM_198963.2:c.3721G>A, NM_198963.1:c.3721G>A, NM_145646.2:c.*2019G>A, NM_001329963.1:c.3415G>A, XM_024453215.1:c.3415G>A, NM_145646.1:c.2143G>A, XP_011531458.1:p.Gly1241Arg, XP_011531456.1:p.Gly1241Arg, XP_011531457.1:p.Gly1241Arg, NP_945314.1:p.Gly1241Arg, NP_001316892.1:p.Gly1139Arg, XP_024308983.1:p.Gly1139Arg

Select item 147950556519.

rs1479505565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38861780 (GRCh38)
2:39088922 (GRCh37)
Canonical SPDI:: NC_000002.12:38861779:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.38861780C>T, NC_000002.11:g.39088922C>T, XM_011533156.4:c.630G>A, XM_011533156.3:c.630G>A, XM_011533156.2:c.630G>A, XM_011533156.1:c.630G>A, XM_011533154.3:c.630G>A, XM_011533154.2:c.630G>A, XM_011533154.1:c.630G>A, XM_011533155.3:c.630G>A, XM_011533155.2:c.630G>A, XM_011533155.1:c.630G>A, NM_198963.3:c.630G>A, NM_198963.2:c.630G>A, NM_198963.1:c.630G>A, NM_145646.2:c.324G>A, NM_144995.2:c.324G>A, NM_001329963.1:c.324G>A, XM_024453215.1:c.324G>A, XM_047446268.1:c.630G>A, XM_047446269.1:c.630G>A, NM_144995.1:c.324G>A

Select item 147830617620.

rs1478306176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:38802859 (GRCh38)
2:39030001 (GRCh37)
Canonical SPDI:: NC_000002.12:38802858:T:G
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.38802859T>G, NC_000002.11:g.39030001T>G, XM_011533156.4:c.3873A>C, XM_011533156.3:c.3873A>C, XM_011533156.2:c.3873A>C, XM_011533156.1:c.3873A>C, XM_011533154.3:c.3873A>C, XM_011533154.2:c.3873A>C, XM_011533154.1:c.3873A>C, XM_011533155.3:c.3873A>C, XM_011533155.2:c.3873A>C, XM_011533155.1:c.3873A>C, NM_198963.3:c.3873A>C, NM_198963.2:c.3873A>C, NM_198963.1:c.3873A>C, NM_145646.2:c.*2171A>C, NM_001329963.1:c.3567A>C, XM_024453215.1:c.3567A>C, NM_145646.1:c.2295A>C

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Result Filters

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Items: 1 to 20 of 1494

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