SNP Links for Nucleotide (Select 281182741) - SNP

Links from Nucleotide

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Select item 14915558061.

rs1491555806 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:43055656 (GRCh38)
6:43023394 (GRCh37)
Canonical SPDI:: NC_000006.12:43055655:AG:
Gene:: CUL7 (Varview), MRPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000378/7 (ALFA)
-=0./0 (TWINSUK)
-=0.00024/3 (GoESP)
-=0.000259/1 (ALSPAC)
-=0.000314/83 (TOPMED)
-=0.000585/82 (GnomAD)
-=0.000602/10 (TOMMO)
-=0.000684/171 (GnomAD_exomes)
-=0.000696/84 (ExAC)
-=0.001116/5 (Estonian)
-=0.001405/7 (1000Genomes)
HGVS:: NC_000006.12:g.43055656_43055657del, NC_000006.11:g.43023394_43023395del, NG_016205.1:g.3289_3290del

Select item 14915466452.

rs1491546645 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:43042023 (GRCh38)
6:43009761 (GRCh37)
Canonical SPDI:: NC_000006.12:43042022:AG:
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43042023_43042024del, NC_000006.11:g.43009761_43009762del, NG_016205.1:g.16922_16923del

Select item 14914865143.

rs1491486514 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:43054239 (GRCh38)
6:43021978 (GRCh37)
Canonical SPDI:: NC_000006.12:43054239::A
Gene:: CUL7 (Varview), MRPL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.43054239_43054240insA, NC_000006.11:g.43021977_43021978insA, NG_016205.1:g.4706_4707insT, XM_005249161.6:c.*34_*35insT, XM_005249161.5:c.*34_*35insT, XM_005249161.4:c.*34_*35insT, XM_005249161.3:c.*34_*35insT, XM_005249161.2:c.*34_*35insT, XM_005249161.1:c.*34_*35insT, NM_015950.5:c.*34_*35insT, NM_015950.4:c.*34_*35insT, NM_015950.3:c.*34_*35insT, NM_001300848.2:c.*200_*201insT, NM_001300848.1:c.*200_*201insT, XM_047418851.1:c.*34_*35insT

Select item 14913975544.

rs1491397554 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->T
Chromosome:: no mapping
Canonical SPDI:

Select item 14912490025.

rs1491249002 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 6:43042023 (GRCh38)
6:43009762 (GRCh37)
Canonical SPDI:: NC_000006.12:43042023::AT
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
AT=0.000016/2 (GnomAD)
AT=0.000392/7 (TOMMO)
HGVS:: NC_000006.12:g.43042023_43042024insAT, NC_000006.11:g.43009761_43009762insAT, NG_016205.1:g.16922_16923insAT

Select item 14910964236.

rs1491096423 has merged into rs58059598 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 6:43050571 (GRCh38)
6:43018309 (GRCh37)
Canonical SPDI:: NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:43050549:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: CUL7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.43050551CA[10], NC_000006.12:g.43050551CA[11], NC_000006.12:g.43050551CA[12], NC_000006.12:g.43050551CA[13], NC_000006.12:g.43050551CA[14], NC_000006.12:g.43050551CA[15], NC_000006.12:g.43050551CA[16], NC_000006.12:g.43050551CA[17], NC_000006.12:g.43050551CA[18], NC_000006.12:g.43050551CA[19], NC_000006.12:g.43050551CA[20], NC_000006.12:g.43050551CA[21], NC_000006.12:g.43050551CA[22], NC_000006.12:g.43050551CA[23], NC_000006.12:g.43050551CA[24], NC_000006.12:g.43050551CA[25], NC_000006.12:g.43050551CA[26], NC_000006.12:g.43050551CA[27], NC_000006.12:g.43050551CA[29], NC_000006.12:g.43050551CA[30], NC_000006.12:g.43050551CA[31], NC_000006.12:g.43050551CA[32], NC_000006.12:g.43050551CA[33], NC_000006.12:g.43050551CA[34], NC_000006.12:g.43050551CA[35], NC_000006.12:g.43050551CA[36], NC_000006.12:g.43050551CA[37], NC_000006.12:g.43050551CA[38], NC_000006.12:g.43050551CA[39], NC_000006.12:g.43050551CA[40], NC_000006.11:g.43018289CA[10], NC_000006.11:g.43018289CA[11], NC_000006.11:g.43018289CA[12], NC_000006.11:g.43018289CA[13], NC_000006.11:g.43018289CA[14], NC_000006.11:g.43018289CA[15], NC_000006.11:g.43018289CA[16], NC_000006.11:g.43018289CA[17], NC_000006.11:g.43018289CA[18], NC_000006.11:g.43018289CA[19], NC_000006.11:g.43018289CA[20], NC_000006.11:g.43018289CA[21], NC_000006.11:g.43018289CA[22], NC_000006.11:g.43018289CA[23], NC_000006.11:g.43018289CA[24], NC_000006.11:g.43018289CA[25], NC_000006.11:g.43018289CA[26], NC_000006.11:g.43018289CA[27], NC_000006.11:g.43018289CA[29], NC_000006.11:g.43018289CA[30], NC_000006.11:g.43018289CA[31], NC_000006.11:g.43018289CA[32], NC_000006.11:g.43018289CA[33], NC_000006.11:g.43018289CA[34], NC_000006.11:g.43018289CA[35], NC_000006.11:g.43018289CA[36], NC_000006.11:g.43018289CA[37], NC_000006.11:g.43018289CA[38], NC_000006.11:g.43018289CA[39], NC_000006.11:g.43018289CA[40], NG_016205.1:g.8341GT[10], NG_016205.1:g.8341GT[11], NG_016205.1:g.8341GT[12], NG_016205.1:g.8341GT[13], NG_016205.1:g.8341GT[14], NG_016205.1:g.8341GT[15], NG_016205.1:g.8341GT[16], NG_016205.1:g.8341GT[17], NG_016205.1:g.8341GT[18], NG_016205.1:g.8341GT[19], NG_016205.1:g.8341GT[20], NG_016205.1:g.8341GT[21], NG_016205.1:g.8341GT[22], NG_016205.1:g.8341GT[23], NG_016205.1:g.8341GT[24], NG_016205.1:g.8341GT[25], NG_016205.1:g.8341GT[26], NG_016205.1:g.8341GT[27], NG_016205.1:g.8341GT[29], NG_016205.1:g.8341GT[30], NG_016205.1:g.8341GT[31], NG_016205.1:g.8341GT[32], NG_016205.1:g.8341GT[33], NG_016205.1:g.8341GT[34], NG_016205.1:g.8341GT[35], NG_016205.1:g.8341GT[36], NG_016205.1:g.8341GT[37], NG_016205.1:g.8341GT[38], NG_016205.1:g.8341GT[39], NG_016205.1:g.8341GT[40]

Select item 14909724437.

rs1490972443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43037731 (GRCh38)
6:43005469 (GRCh37)
Canonical SPDI:: NC_000006.12:43037730:T:C
Gene:: CUL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.43037731T>C, NC_000006.11:g.43005469T>C, NG_016205.1:g.21215A>G, NM_014780.5:c.5054A>G, NM_014780.4:c.5054A>G, NM_001168370.2:c.5150A>G, NM_001168370.1:c.5306A>G, NM_001374872.1:c.5150A>G, NM_001374873.1:c.5066A>G, NM_001374874.1:c.5051A>G, XM_005249503.4:c.5054A>G, XM_005249503.3:c.5210A>G, XM_005249503.2:c.5210A>G, XM_005249503.1:c.5210A>G, XM_011515019.3:c.5162A>G, XM_011515019.2:c.5318A>G, XM_011515019.1:c.5318A>G, XM_011515020.3:c.5066A>G, XM_011515020.2:c.5222A>G, XM_011515020.1:c.5222A>G, XM_017011533.2:c.5189A>G, XM_017011533.1:c.5345A>G, XM_017011534.2:c.5177A>G, XM_017011534.1:c.5333A>G, XM_017011535.2:c.5093A>G, XM_017011535.1:c.5249A>G, XM_011515021.2:c.2927A>G, XM_011515021.1:c.2927A>G, XM_047419600.1:c.5081A>G, XM_047419601.1:c.2915A>G, NP_055595.2:p.Tyr1685Cys, NP_001161842.2:p.Tyr1717Cys, NP_001361801.1:p.Tyr1717Cys, NP_001361802.1:p.Tyr1689Cys, NP_001361803.1:p.Tyr1684Cys, XP_005249560.2:p.Tyr1685Cys, XP_011513321.2:p.Tyr1721Cys, XP_011513322.2:p.Tyr1689Cys, XP_016867022.2:p.Tyr1730Cys, XP_016867023.2:p.Tyr1726Cys, XP_016867024.2:p.Tyr1698Cys, XP_011513323.1:p.Tyr976Cys, XP_047275556.1:p.Tyr1694Cys, XP_047275557.1:p.Tyr972Cys

Select item 14907076888.

rs1490707688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43044361 (GRCh38)
6:43012099 (GRCh37)
Canonical SPDI:: NC_000006.12:43044360:T:C
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43044361T>C, NC_000006.11:g.43012099T>C, NG_016205.1:g.14585A>G, XR_007059581.1:n.1393T>C

Select item 14906246189.

rs1490624618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:43052658 (GRCh38)
6:43020397 (GRCh37)
Canonical SPDI:: NC_000006.12:43052658:T:TT
Gene:: CUL7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43052659dup, NC_000006.11:g.43020397dup, NG_016205.1:g.6287dup, NM_014780.5:c.130dup, NM_014780.4:c.130dup, NM_001168370.2:c.130dup, NM_001168370.1:c.286dup, NM_001374872.1:c.130dup, NM_001374873.1:c.130dup, NM_001374874.1:c.130dup, XM_005249503.4:c.130dup, XM_005249503.3:c.286dup, XM_005249503.2:c.286dup, XM_005249503.1:c.286dup, XM_011515019.3:c.130dup, XM_011515019.2:c.286dup, XM_011515019.1:c.286dup, XM_011515020.3:c.130dup, XM_011515020.2:c.286dup, XM_011515020.1:c.286dup, XM_017011533.2:c.130dup, XM_017011533.1:c.286dup, XM_017011534.2:c.130dup, XM_017011534.1:c.286dup, XM_017011535.2:c.130dup, XM_017011535.1:c.286dup, XM_047419600.1:c.130dup, NP_055595.2:p.Ile44fs, NP_001161842.2:p.Ile44fs, NP_001361801.1:p.Ile44fs, NP_001361802.1:p.Ile44fs, NP_001361803.1:p.Ile44fs, XP_005249560.2:p.Ile44fs, XP_011513321.2:p.Ile44fs, XP_011513322.2:p.Ile44fs, XP_016867022.2:p.Ile44fs, XP_016867023.2:p.Ile44fs, XP_016867024.2:p.Ile44fs, XP_047275556.1:p.Ile44fs

Select item 149047461110.

rs1490474611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43038002 (GRCh38)
6:43005740 (GRCh37)
Canonical SPDI:: NC_000006.12:43038001:C:A
Gene:: CUL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43038002C>A, NC_000006.11:g.43005740C>A, NG_016205.1:g.20944G>T, NM_014780.5:c.4783G>T, NM_014780.4:c.4783G>T, NM_001168370.2:c.4879G>T, NM_001168370.1:c.5035G>T, NM_001374872.1:c.4879G>T, NM_001374873.1:c.4795G>T, NM_001374874.1:c.4780G>T, XM_005249503.4:c.4783G>T, XM_005249503.3:c.4939G>T, XM_005249503.2:c.4939G>T, XM_005249503.1:c.4939G>T, XM_011515019.3:c.4891G>T, XM_011515019.2:c.5047G>T, XM_011515019.1:c.5047G>T, XM_011515020.3:c.4795G>T, XM_011515020.2:c.4951G>T, XM_011515020.1:c.4951G>T, XM_017011533.2:c.4918G>T, XM_017011533.1:c.5074G>T, XM_017011534.2:c.4906G>T, XM_017011534.1:c.5062G>T, XM_017011535.2:c.4822G>T, XM_017011535.1:c.4978G>T, XM_011515021.2:c.2656G>T, XM_011515021.1:c.2656G>T, XM_047419600.1:c.4810G>T, XM_047419601.1:c.2644G>T, NP_055595.2:p.Ala1595Ser, NP_001161842.2:p.Ala1627Ser, NP_001361801.1:p.Ala1627Ser, NP_001361802.1:p.Ala1599Ser, NP_001361803.1:p.Ala1594Ser, XP_005249560.2:p.Ala1595Ser, XP_011513321.2:p.Ala1631Ser, XP_011513322.2:p.Ala1599Ser, XP_016867022.2:p.Ala1640Ser, XP_016867023.2:p.Ala1636Ser, XP_016867024.2:p.Ala1608Ser, XP_011513323.1:p.Ala886Ser, XP_047275556.1:p.Ala1604Ser, XP_047275557.1:p.Ala882Ser

Select item 149037091711.

rs1490370917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43057507 (GRCh38)
6:43025245 (GRCh37)
Canonical SPDI:: NC_000006.12:43057506:G:A
Gene:: MRPL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000006.12:g.43057507G>A, NC_000006.11:g.43025245G>A, NG_016205.1:g.1439C>T

Select item 149025882012.

rs1490258820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:43038796 (GRCh38)
6:43006534 (GRCh37)
Canonical SPDI:: NC_000006.12:43038795:G:A,NC_000006.12:43038795:G:C
Gene:: CUL7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43038796G>A, NC_000006.12:g.43038796G>C, NC_000006.11:g.43006534G>A, NC_000006.11:g.43006534G>C, NG_016205.1:g.20150C>T, NG_016205.1:g.20150C>G

Select item 149021955313.

rs1490219553 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:43044788 (GRCh38)
6:43012526 (GRCh37)
Canonical SPDI:: NC_000006.12:43044787:GGG:GG
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.43044790del, NC_000006.11:g.43012528del, NG_016205.1:g.14158del, NM_014780.5:c.3136del, NM_014780.4:c.3136del, NM_001168370.2:c.3232del, NM_001168370.1:c.3388del, NM_001374872.1:c.3232del, NM_001374873.1:c.3136del, NM_001374874.1:c.3136del, XM_005249503.4:c.3136del, XM_005249503.3:c.3292del, XM_005249503.2:c.3292del, XM_005249503.1:c.3292del, XM_011515019.3:c.3232del, XM_011515019.2:c.3388del, XM_011515019.1:c.3388del, XM_011515020.3:c.3136del, XM_011515020.2:c.3292del, XM_011515020.1:c.3292del, XM_017011533.2:c.3259del, XM_017011533.1:c.3415del, XM_017011534.2:c.3259del, XM_017011534.1:c.3415del, XM_017011535.2:c.3163del, XM_017011535.1:c.3319del, XM_011515021.2:c.997del, XM_011515021.1:c.997del, XM_047419600.1:c.3163del, XM_047419601.1:c.997del, XR_007059581.1:n.1822del, NP_055595.2:p.Leu1046fs, NP_001161842.2:p.Leu1078fs, NP_001361801.1:p.Leu1078fs, NP_001361802.1:p.Leu1046fs, NP_001361803.1:p.Leu1046fs, XP_005249560.2:p.Leu1046fs, XP_011513321.2:p.Leu1078fs, XP_011513322.2:p.Leu1046fs, XP_016867022.2:p.Leu1087fs, XP_016867023.2:p.Leu1087fs, XP_016867024.2:p.Leu1055fs, XP_011513323.1:p.Leu333fs, XP_047275556.1:p.Leu1055fs, XP_047275557.1:p.Leu333fs

Select item 149020339214.

rs1490203392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43045973 (GRCh38)
6:43013711 (GRCh37)
Canonical SPDI:: NC_000006.12:43045972:C:A
Gene:: CUL7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43045973C>A, NC_000006.11:g.43013711C>A, NG_016205.1:g.12973G>T

Select item 149016378315.

rs1490163783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:43053845 (GRCh38)
6:43021583 (GRCh37)
Canonical SPDI:: NC_000006.12:43053844:A:C
Gene:: CUL7 (Varview), MRPL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.43053845A>C, NC_000006.11:g.43021583A>C, NG_016205.1:g.5101T>G, NM_014780.5:c.-232T>G, NM_014780.4:c.-232T>G, NM_001168370.2:c.-143T>G, NM_001168370.1:c.14T>G, NM_001374872.1:c.-232T>G, NM_001374873.1:c.-232T>G, NM_001374874.1:c.-232T>G, XM_005249503.4:c.-143T>G, XM_005249503.3:c.14T>G, XM_005249503.2:c.14T>G, XM_005249503.1:c.14T>G, XM_011515019.3:c.-143T>G, XM_011515019.2:c.14T>G, XM_011515019.1:c.14T>G, XM_011515020.3:c.-143T>G, XM_011515020.2:c.14T>G, XM_011515020.1:c.14T>G, XM_017011533.2:c.-143T>G, XM_017011533.1:c.14T>G, XM_017011534.2:c.-143T>G, XM_017011534.1:c.14T>G, XM_017011535.2:c.-143T>G, XM_017011535.1:c.14T>G, XM_047419600.1:c.-143T>G

Select item 148998987716.

rs1489989877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43044094 (GRCh38)
6:43011832 (GRCh37)
Canonical SPDI:: NC_000006.12:43044093:G:A
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43044094G>A, NC_000006.11:g.43011832G>A, NG_016205.1:g.14852C>T, XR_007059581.1:n.1126G>A

Select item 148974532117.

rs1489745321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43040170 (GRCh38)
6:43007908 (GRCh37)
Canonical SPDI:: NC_000006.12:43040169:T:C
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43040170T>C, NC_000006.11:g.43007908T>C, NG_016205.1:g.18776A>G, NM_014780.5:c.4280A>G, NM_014780.4:c.4280A>G, NM_001168370.2:c.4376A>G, NM_001168370.1:c.4532A>G, NM_001374872.1:c.4376A>G, NM_001374873.1:c.4280A>G, NM_001374874.1:c.4277A>G, XM_005249503.4:c.4280A>G, XM_005249503.3:c.4436A>G, XM_005249503.2:c.4436A>G, XM_005249503.1:c.4436A>G, XM_011515019.3:c.4376A>G, XM_011515019.2:c.4532A>G, XM_011515019.1:c.4532A>G, XM_011515020.3:c.4280A>G, XM_011515020.2:c.4436A>G, XM_011515020.1:c.4436A>G, XM_017011533.2:c.4403A>G, XM_017011533.1:c.4559A>G, XM_017011534.2:c.4403A>G, XM_017011534.1:c.4559A>G, XM_017011535.2:c.4307A>G, XM_017011535.1:c.4463A>G, XM_011515021.2:c.2141A>G, XM_011515021.1:c.2141A>G, XM_047419600.1:c.4307A>G, XM_047419601.1:c.2141A>G, NP_055595.2:p.Asn1427Ser, NP_001161842.2:p.Asn1459Ser, NP_001361801.1:p.Asn1459Ser, NP_001361802.1:p.Asn1427Ser, NP_001361803.1:p.Asn1426Ser, XP_005249560.2:p.Asn1427Ser, XP_011513321.2:p.Asn1459Ser, XP_011513322.2:p.Asn1427Ser, XP_016867022.2:p.Asn1468Ser, XP_016867023.2:p.Asn1468Ser, XP_016867024.2:p.Asn1436Ser, XP_011513323.1:p.Asn714Ser, XP_047275556.1:p.Asn1436Ser, XP_047275557.1:p.Asn714Ser

Select item 148971118918.

rs1489711189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43040994 (GRCh38)
6:43008732 (GRCh37)
Canonical SPDI:: NC_000006.12:43040993:C:G
Gene:: CUL7 (Varview), LOC124901318 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43040994C>G, NC_000006.11:g.43008732C>G, NG_016205.1:g.17952G>C, NM_014780.5:c.3727G>C, NM_014780.4:c.3727G>C, NM_001168370.2:c.3823G>C, NM_001168370.1:c.3979G>C, NM_001374872.1:c.3823G>C, NM_001374873.1:c.3727G>C, NM_001374874.1:c.3724G>C, XM_005249503.4:c.3727G>C, XM_005249503.3:c.3883G>C, XM_005249503.2:c.3883G>C, XM_005249503.1:c.3883G>C, XM_011515019.3:c.3823G>C, XM_011515019.2:c.3979G>C, XM_011515019.1:c.3979G>C, XM_011515020.3:c.3727G>C, XM_011515020.2:c.3883G>C, XM_011515020.1:c.3883G>C, XM_017011533.2:c.3850G>C, XM_017011533.1:c.4006G>C, XM_017011534.2:c.3850G>C, XM_017011534.1:c.4006G>C, XM_017011535.2:c.3754G>C, XM_017011535.1:c.3910G>C, XM_011515021.2:c.1588G>C, XM_011515021.1:c.1588G>C, XM_047419600.1:c.3754G>C, XM_047419601.1:c.1588G>C, NP_055595.2:p.Ala1243Pro, NP_001161842.2:p.Ala1275Pro, NP_001361801.1:p.Ala1275Pro, NP_001361802.1:p.Ala1243Pro, NP_001361803.1:p.Ala1242Pro, XP_005249560.2:p.Ala1243Pro, XP_011513321.2:p.Ala1275Pro, XP_011513322.2:p.Ala1243Pro, XP_016867022.2:p.Ala1284Pro, XP_016867023.2:p.Ala1284Pro, XP_016867024.2:p.Ala1252Pro, XP_011513323.1:p.Ala530Pro, XP_047275556.1:p.Ala1252Pro, XP_047275557.1:p.Ala530Pro

Select item 148946239119.

rs1489462391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43057564 (GRCh38)
6:43025302 (GRCh37)
Canonical SPDI:: NC_000006.12:43057563:G:A
Gene:: MRPL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43057564G>A, NC_000006.11:g.43025302G>A, NG_016205.1:g.1382C>T

Select item 148939372420.

rs1489393724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43048675 (GRCh38)
6:43016413 (GRCh37)
Canonical SPDI:: NC_000006.12:43048674:G:A
Gene:: CUL7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.43048675G>A, NC_000006.11:g.43016413G>A, NG_016205.1:g.10271C>T

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