SNP Links for Gene (Select 23383) - SNP

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Select item 14913620681.

rs1491362068 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA [Show Flanks]
Chromosome:: 19:19332350 (GRCh38)
19:19443160 (GRCh37)
Canonical SPDI:: NC_000019.10:19332350::TA,NC_000019.10:19332350::TTA
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
HGVS:: NC_000019.10:g.19332350_19332351insTA, NC_000019.10:g.19332350_19332351insTTA, NC_000019.9:g.19443159_19443160insTA, NC_000019.9:g.19443159_19443160insTTA

Select item 14913179102.

rs1491317910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATAT,GTATATATGTATATATAT [Show Flanks]
Chromosome:: 19:19326722 (GRCh38)
19:19437532 (GRCh37)
Canonical SPDI:: NC_000019.10:19326722:TATATATAT:TATATATATGTATATATAT,NC_000019.10:19326722:TATATATAT:TATATATATGTATATATGTATATATAT
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TATATATATG=0.00048/7 (TOMMO)
TATATATATG=0.00133/2 (Korea1K)
HGVS:: NC_000019.10:g.19326723_19326731TA[4]TGTATATATAT[1], NC_000019.10:g.19326723_19326731TA[4]TGTATATA[2]TAT[1], NC_000019.9:g.19437532_19437540TA[4]TGTATATATAT[1], NC_000019.9:g.19437532_19437540TA[4]TGTATATA[2]TAT[1]

Select item 14912908893.

rs1491290889 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:19357800 (GRCh38)
19:19468609 (GRCh37)
Canonical SPDI:: NC_000019.10:19357799:AT:
Gene:: MAU2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.19357800_19357801del, NC_000019.9:g.19468609_19468610del, XM_005259838.5:c.*2018_*2019del, XM_005259838.3:c.*2018_*2019del, XM_005259838.2:c.*2018_*2019del, XM_005259838.1:c.*2018_*2019del, NM_015329.4:c.*2018_*2019del, NM_015329.3:c.*2018_*2019del, XM_005259837.4:c.*2018_*2019del, XM_005259837.3:c.*2018_*2019del, XM_005259837.2:c.*2018_*2019del, XM_005259837.1:c.*2018_*2019del, XM_011527844.3:c.*2018_*2019del, XM_011527844.2:c.*2018_*2019del, XM_011527844.1:c.*2018_*2019del, XM_017026539.3:c.*2018_*2019del

Select item 14911378744.

rs1491137874 has merged into rs35247410 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA,TATATATGTATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA,TATATATGTATATATATATATATATACATATATATATATATATA [Show Flanks]
Chromosome:: 19:19326731 (GRCh38)
19:19437540 (GRCh37)
Canonical SPDI:: NC_000019.10:19326721:ATATATATATATATA:ATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATATATATATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATGTATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA,NC_000019.10:19326721:ATATATATATATATA:ATATATATATATATATGTATATATATATATATATACATATATATATATATATA
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.19326723TA[4], NC_000019.10:g.19326723TA[6], NC_000019.10:g.19326723TA[8], NC_000019.10:g.19326723TA[9], NC_000019.10:g.19326723TA[10], NC_000019.10:g.19326723TA[11], NC_000019.10:g.19326722_19326736AT[14]AC[2]AT[5]GT[2]AT[6]ACATATATATATATATATA[1], NC_000019.10:g.19326722_19326736AT[8]GTATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA[1], NC_000019.10:g.19326722_19326736AT[8]GTATATATATATATATATACATATATATATATATATA[1], NC_000019.9:g.19437532TA[4], NC_000019.9:g.19437532TA[6], NC_000019.9:g.19437532TA[8], NC_000019.9:g.19437532TA[9], NC_000019.9:g.19437532TA[10], NC_000019.9:g.19437532TA[11], NC_000019.9:g.19437531_19437545AT[14]AC[2]AT[5]GT[2]AT[6]ACATATATATATATATATA[1], NC_000019.9:g.19437531_19437545AT[8]GTATATATACACATATATATATGTGTATATATATATATACATATATATATATATATA[1], NC_000019.9:g.19437531_19437545AT[8]GTATATATATATATATATACATATATATATATATATA[1]

Select item 14911193005.

rs1491119300 has merged into rs201378778 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:19350910 (GRCh38)
19:19461719 (GRCh37)
Canonical SPDI:: NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:19350899:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4667/2337 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000019.10:g.19350910_19350914del, NC_000019.10:g.19350912_19350914del, NC_000019.10:g.19350913_19350914del, NC_000019.10:g.19350914del, NC_000019.10:g.19350914dup, NC_000019.10:g.19350913_19350914dup, NC_000019.9:g.19461719_19461723del, NC_000019.9:g.19461721_19461723del, NC_000019.9:g.19461722_19461723del, NC_000019.9:g.19461723del, NC_000019.9:g.19461723dup, NC_000019.9:g.19461722_19461723dup

Select item 14910089556.

rs1491008955 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:19359098 (GRCh38)
19:19469907 (GRCh37)
Canonical SPDI:: NC_000019.10:19359096:TGT:T
Gene:: MAU2 (Varview), LOC124904656 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000019.10:g.19359098_19359099del, NC_000019.9:g.19469907_19469908del

Select item 14910078767.

rs1491007876 has merged into rs34536394 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19349988 (GRCh38)
19:19460797 (GRCh37)
Canonical SPDI:: NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19349975:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MAU2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.19349988_19349999del, NC_000019.10:g.19349989_19349999del, NC_000019.10:g.19349991_19349999del, NC_000019.10:g.19349992_19349999del, NC_000019.10:g.19349993_19349999del, NC_000019.10:g.19349994_19349999del, NC_000019.10:g.19349996_19349999del, NC_000019.10:g.19349997_19349999del, NC_000019.10:g.19349998_19349999del, NC_000019.10:g.19349999del, NC_000019.10:g.19349999dup, NC_000019.10:g.19349998_19349999dup, NC_000019.10:g.19349997_19349999dup, NC_000019.10:g.19349996_19349999dup, NC_000019.10:g.19349995_19349999dup, NC_000019.10:g.19349992_19349999dup, NC_000019.9:g.19460797_19460808del, NC_000019.9:g.19460798_19460808del, NC_000019.9:g.19460800_19460808del, NC_000019.9:g.19460801_19460808del, NC_000019.9:g.19460802_19460808del, NC_000019.9:g.19460803_19460808del, NC_000019.9:g.19460805_19460808del, NC_000019.9:g.19460806_19460808del, NC_000019.9:g.19460807_19460808del, NC_000019.9:g.19460808del, NC_000019.9:g.19460808dup, NC_000019.9:g.19460807_19460808dup, NC_000019.9:g.19460806_19460808dup, NC_000019.9:g.19460805_19460808dup, NC_000019.9:g.19460804_19460808dup, NC_000019.9:g.19460801_19460808dup

Select item 14908517128.

rs1490851712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:19358735 (GRCh38)
19:19469544 (GRCh37)
Canonical SPDI:: NC_000019.10:19358734:A:T
Gene:: MAU2 (Varview), LOC124904656 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19358735A>T, NC_000019.9:g.19469544A>T, XM_005259838.5:c.*2953A>T, XM_005259838.2:c.*2953A>T, XM_005259838.1:c.*2953A>T, NM_015329.4:c.*2953A>T, NM_015329.3:c.*2953A>T, XM_005259837.4:c.*2953A>T, XM_005259837.2:c.*2953A>T, XM_005259837.1:c.*2953A>T, XM_011527844.3:c.*2953A>T, XM_011527844.1:c.*2953A>T, XM_017026539.3:c.*2953A>T, XR_007067163.1:n.708T>A, XR_007067161.1:n.345T>A, XR_007067162.1:n.320T>A

Select item 14906153019.

rs1490615301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19346109 (GRCh38)
19:19456918 (GRCh37)
Canonical SPDI:: NC_000019.10:19346108:G:A
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000071/10 (GnomAD)
A=0.000177/3 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.19346109G>A, NC_000019.9:g.19456918G>A

Select item 149057183710.

rs1490571837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19351129 (GRCh38)
19:19461938 (GRCh37)
Canonical SPDI:: NC_000019.10:19351128:C:A
Gene:: MAU2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.19351129C>A, NC_000019.9:g.19461938C>A

Select item 149054673911.

rs1490546739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19350418 (GRCh38)
19:19461227 (GRCh37)
Canonical SPDI:: NC_000019.10:19350417:A:G
Gene:: MAU2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.19350418A>G, NC_000019.9:g.19461227A>G

Select item 149053025712.

rs1490530257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19325136 (GRCh38)
19:19435945 (GRCh37)
Canonical SPDI:: NC_000019.10:19325135:C:A
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19325136C>A, NC_000019.9:g.19435945C>A

Select item 149048645013.

rs1490486450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:19320458 (GRCh38)
19:19431267 (GRCh37)
Canonical SPDI:: NC_000019.10:19320457:G:A,NC_000019.10:19320457:G:C
Gene:: MAU2 (Varview), SUGP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19320458G>A, NC_000019.10:g.19320458G>C, NC_000019.9:g.19431267G>A, NC_000019.9:g.19431267G>C

Select item 149043214214.

rs1490432142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:19323237 (GRCh38)
19:19434046 (GRCh37)
Canonical SPDI:: NC_000019.10:19323236:C:G
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19323237C>G, NC_000019.9:g.19434046C>G

Select item 149041117815.

rs1490411178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19344107 (GRCh38)
19:19454916 (GRCh37)
Canonical SPDI:: NC_000019.10:19344106:A:G
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19344107A>G, NC_000019.9:g.19454916A>G

Select item 149030256216.

rs1490302562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19342343 (GRCh38)
19:19453152 (GRCh37)
Canonical SPDI:: NC_000019.10:19342342:G:C
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19342343G>C, NC_000019.9:g.19453152G>C

Select item 149029062017.

rs1490290620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19330431 (GRCh38)
19:19441240 (GRCh37)
Canonical SPDI:: NC_000019.10:19330430:A:G
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.001092/2 (Korea1K)
G=0.003326/56 (TOMMO)
G=0.003765/11 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.19330431A>G, NC_000019.9:g.19441240A>G

Select item 149027151518.

rs1490271515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19343152 (GRCh38)
19:19453961 (GRCh37)
Canonical SPDI:: NC_000019.10:19343151:G:A
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19343152G>A, NC_000019.9:g.19453961G>A

Select item 149017950719.

rs1490179507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19357523 (GRCh38)
19:19468332 (GRCh37)
Canonical SPDI:: NC_000019.10:19357522:G:A
Gene:: MAU2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000019.10:g.19357523G>A, NC_000019.9:g.19468332G>A, XM_005259838.5:c.*1741G>A, XM_005259838.4:c.*1741G>A, XM_005259838.3:c.*1741G>A, XM_005259838.2:c.*1741G>A, XM_005259838.1:c.*1741G>A, NM_015329.4:c.*1741G>A, NM_015329.3:c.*1741G>A, XM_005259837.4:c.*1741G>A, XM_005259837.3:c.*1741G>A, XM_005259837.2:c.*1741G>A, XM_005259837.1:c.*1741G>A, XM_011527844.3:c.*1741G>A, XM_011527844.2:c.*1741G>A, XM_011527844.1:c.*1741G>A, XM_017026539.3:c.*1741G>A, XM_017026539.2:c.*1741G>A, XM_017026539.1:c.*1741G>A

Select item 149017268620.

rs1490172686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:19337121 (GRCh38)
19:19447931 (GRCh37)
Canonical SPDI:: NC_000019.10:19337121:TT:TTT
Gene:: MAU2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.19337123dup, NC_000019.9:g.19447932dup

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