SNP Links for Nucleotide (Select 1050193295) - SNP

Select item 14910250033.

rs1491025003 has merged into rs34207268 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:38797912 (GRCh38)
2:39025054 (GRCh37)
Canonical SPDI:: NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:38797901:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.4287/2147 (1000Genomes)
HGVS:: NC_000002.12:g.38797912_38797913del, NC_000002.12:g.38797913del, NC_000002.12:g.38797913dup, NC_000002.12:g.38797912_38797913dup, NC_000002.12:g.38797911_38797913dup, NC_000002.12:g.38797907_38797913dup, NC_000002.11:g.39025054_39025055del, NC_000002.11:g.39025055del, NC_000002.11:g.39025055dup, NC_000002.11:g.39025054_39025055dup, NC_000002.11:g.39025053_39025055dup, NC_000002.11:g.39025049_39025055dup, XM_011533156.4:c.*540_*541del, XM_011533156.4:c.*541del, XM_011533156.4:c.*541dup, XM_011533156.4:c.*540_*541dup, XM_011533156.4:c.*539_*541dup, XM_011533156.4:c.*535_*541dup, XM_011533156.3:c.*540_*541del, XM_011533156.3:c.*541del, XM_011533156.3:c.*541dup, XM_011533156.3:c.*540_*541dup, XM_011533156.3:c.*539_*541dup, XM_011533156.3:c.*535_*541dup, XM_011533154.3:c.*396_*397del, XM_011533154.3:c.*397del, XM_011533154.3:c.*397dup, XM_011533154.3:c.*396_*397dup, XM_011533154.3:c.*395_*397dup, XM_011533154.3:c.*391_*397dup, XM_011533154.2:c.*396_*397del, XM_011533154.2:c.*397del, XM_011533154.2:c.*397dup, XM_011533154.2:c.*396_*397dup, XM_011533154.2:c.*395_*397dup, XM_011533154.2:c.*391_*397dup, XM_011533154.1:c.*396_*397del, XM_011533154.1:c.*397del, XM_011533154.1:c.*397dup, XM_011533154.1:c.*396_*397dup, XM_011533154.1:c.*395_*397dup, XM_011533154.1:c.*391_*397dup, XM_011533155.3:c.*396_*397del, XM_011533155.3:c.*397del, XM_011533155.3:c.*397dup, XM_011533155.3:c.*396_*397dup, XM_011533155.3:c.*395_*397dup, XM_011533155.3:c.*391_*397dup, XM_011533155.2:c.*396_*397del, XM_011533155.2:c.*397del, XM_011533155.2:c.*397dup, XM_011533155.2:c.*396_*397dup, XM_011533155.2:c.*395_*397dup, XM_011533155.2:c.*391_*397dup, XM_011533155.1:c.*396_*397del, XM_011533155.1:c.*397del, XM_011533155.1:c.*397dup, XM_011533155.1:c.*396_*397dup, XM_011533155.1:c.*395_*397dup, XM_011533155.1:c.*391_*397dup, NM_198963.3:c.*396_*397del, NM_198963.3:c.*397del, NM_198963.3:c.*397dup, NM_198963.3:c.*396_*397dup, NM_198963.3:c.*395_*397dup, NM_198963.3:c.*391_*397dup, NM_198963.2:c.*396_*397del, NM_198963.2:c.*397del, NM_198963.2:c.*397dup, NM_198963.2:c.*396_*397dup, NM_198963.2:c.*395_*397dup, NM_198963.2:c.*391_*397dup, NM_198963.1:c.*396_*397del, NM_198963.1:c.*397del, NM_198963.1:c.*397dup, NM_198963.1:c.*396_*397dup, NM_198963.1:c.*395_*397dup, NM_198963.1:c.*391_*397dup, NM_145646.2:c.*2855_*2856del, NM_145646.2:c.*2856del, NM_145646.2:c.*2856dup, NM_145646.2:c.*2855_*2856dup, NM_145646.2:c.*2854_*2856dup, NM_145646.2:c.*2850_*2856dup, NM_001329963.1:c.*396_*397del, NM_001329963.1:c.*397del, NM_001329963.1:c.*397dup, NM_001329963.1:c.*396_*397dup, NM_001329963.1:c.*395_*397dup, NM_001329963.1:c.*391_*397dup, XM_024453215.1:c.*396_*397del, XM_024453215.1:c.*397del, XM_024453215.1:c.*397dup, XM_024453215.1:c.*396_*397dup, XM_024453215.1:c.*395_*397dup, XM_024453215.1:c.*391_*397dup, NM_145646.1:c.*396dup, NM_145646.1:c.*396del, NM_145646.1:c.*395_*396dup, NM_145646.1:c.*394_*396dup, NM_145646.1:c.*393_*396dup, NM_145646.1:c.*389_*396dup

Select item 14891713224.

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 14890532355.

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 14886810686.

rs1488681068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38798138 (GRCh38)
2:39025280 (GRCh37)
Canonical SPDI:: NC_000002.12:38798137:C:T
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.38798138C>T, NC_000002.11:g.39025280C>T, XM_011533156.4:c.*305G>A, XM_011533156.3:c.*305G>A, XM_011533154.3:c.*161G>A, XM_011533154.2:c.*161G>A, XM_011533154.1:c.*161G>A, XM_011533155.3:c.*161G>A, XM_011533155.2:c.*161G>A, XM_011533155.1:c.*161G>A, NM_198963.3:c.*161G>A, NM_198963.2:c.*161G>A, NM_198963.1:c.*161G>A, NM_145646.2:c.*2620G>A, NM_001329963.1:c.*161G>A, XM_024453215.1:c.*161G>A, NM_145646.1:c.*161G>A

Select item 14882253957.

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 14881686568.

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 14870792489.

rs1487079248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:38798293 (GRCh38)
2:39025435 (GRCh37)
Canonical SPDI:: NC_000002.12:38798292:T:G
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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.38798293T>G, NC_000002.11:g.39025435T>G, XM_011533156.4:c.*150A>C, XM_011533156.3:c.*150A>C, XM_011533154.3:c.*6A>C, XM_011533154.2:c.*6A>C, XM_011533154.1:c.*6A>C, XM_011533155.3:c.*6A>C, XM_011533155.2:c.*6A>C, XM_011533155.1:c.*6A>C, NM_198963.3:c.*6A>C, NM_198963.2:c.*6A>C, NM_198963.1:c.*6A>C, NM_145646.2:c.*2465A>C, NM_001329963.1:c.*6A>C, XM_024453215.1:c.*6A>C, NM_145646.1:c.*6A>C

Select item 148655112310.

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 148637976311.

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 148587550712.

rs1485875507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:38797982 (GRCh38)
2:39025124 (GRCh37)
Canonical SPDI:: NC_000002.12:38797981:C:G
Gene:: DHX57 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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.38797982C>G, NC_000002.11:g.39025124C>G, XM_011533156.4:c.*461G>C, XM_011533156.3:c.*461G>C, XM_011533154.3:c.*317G>C, XM_011533154.2:c.*317G>C, XM_011533154.1:c.*317G>C, XM_011533155.3:c.*317G>C, XM_011533155.2:c.*317G>C, XM_011533155.1:c.*317G>C, NM_198963.3:c.*317G>C, NM_198963.2:c.*317G>C, NM_198963.1:c.*317G>C, NM_145646.2:c.*2776G>C, NM_001329963.1:c.*317G>C, XM_024453215.1:c.*317G>C, NM_145646.1:c.*317G>C

Select item 148578681813.

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 148538474714.

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 148529105515.

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 148523089816.

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 148448171817.

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 148444548118.

rs1484445481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:38875866 (GRCh38)
2:39103008 (GRCh37)
Canonical SPDI:: NC_000002.12:38875865:C:A
Gene:: DHX57 (Varview), MORN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.38875866C>A, NC_000002.11:g.39103008C>A, XM_011533156.4:c.-86G>T, XM_011533156.3:c.-86G>T, XM_011533156.2:c.-86G>T, XM_011533156.1:c.-86G>T, XM_011533154.3:c.-328G>T, NM_198963.3:c.-86G>T, NM_198963.2:c.-86G>T, NM_198963.1:c.-86G>T, NM_001329963.1:c.-259G>T, XM_047446268.1:c.-86G>T, XM_047446269.1:c.-86G>T

Select item 148411549719.

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 148263396220.

rs1482633962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:38875829 (GRCh38)
2:39102971 (GRCh37)
Canonical SPDI:: NC_000002.12:38875828:C:T
Gene:: DHX57 (Varview), MORN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.38875829C>T, NC_000002.11:g.39102971C>T, XM_011533156.4:c.-49G>A, XM_011533156.3:c.-49G>A, XM_011533156.2:c.-49G>A, XM_011533156.1:c.-49G>A, XM_011533154.3:c.-291G>A, NM_198963.3:c.-49G>A, NM_198963.2:c.-49G>A, NM_198963.1:c.-49G>A, NM_001329963.1:c.-222G>A, XM_047446268.1:c.-49G>A, XM_047446269.1:c.-49G>A

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