SNP Links for Nucleotide (Select 255918082) - SNP

Links from Nucleotide

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Select item 14905907261.

rs1490590726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:100996398 (GRCh38)
10:102756155 (GRCh37)
Canonical SPDI:: NC_000010.11:100996397:A:T
Gene:: LZTS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100996398A>T, NC_000010.10:g.102756155A>T, NG_012624.1:g.13863A>T

Select item 14901495442.

rs1490149544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:100983900 (GRCh38)
10:102743657 (GRCh37)
Canonical SPDI:: NC_000010.11:100983899:C:G,NC_000010.11:100983899:C:T
Gene:: SEMA4G (Varview), MRPL43 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100983900C>G, NC_000010.11:g.100983900C>T, NC_000010.10:g.102743657C>G, NC_000010.10:g.102743657C>T, NG_011646.1:g.8616G>C, NG_011646.1:g.8616G>A, NG_012624.1:g.1365C>G, NG_012624.1:g.1365C>T, NM_017893.4:c.2301C>G, NM_017893.4:c.2301C>T, NM_017893.3:c.2301C>G, NM_017893.3:c.2301C>T, XR_007061978.1:n.3006C>G, XR_007061978.1:n.3006C>T, NR_172054.1:n.2991C>G, NR_172054.1:n.2991C>T, NM_001393925.1:c.2286C>G, NM_001393925.1:c.2286C>T, NR_172056.1:n.2773C>G, NR_172056.1:n.2773C>T, NR_172057.1:n.2758C>G, NR_172057.1:n.2758C>T, NR_172052.1:n.2408C>G, NR_172052.1:n.2408C>T, NR_172053.1:n.2393C>G, NR_172053.1:n.2393C>T

Select item 14900663413.

rs1490066341 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:100988821 (GRCh38)
10:102748578 (GRCh37)
Canonical SPDI:: NC_000010.11:100988820:TT:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100988822del, NC_000010.10:g.102748579del, NG_011646.1:g.3695del, NG_012624.1:g.6287del, NM_021830.5:c.612del, NM_021830.4:c.612del, NM_001163812.2:c.612del, NM_001163812.1:c.612del, NR_160738.1:n.1280del, NR_160742.1:n.1280del, NR_160740.1:n.1280del, NR_160741.1:n.1280del, NP_068602.2:p.Val205fs, NP_001157284.1:p.Val205fs

Select item 14900488144.

rs1490048814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:100986743 (GRCh38)
10:102746500 (GRCh37)
Canonical SPDI:: NC_000010.11:100986742:T:C,NC_000010.11:100986742:T:G
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100986743T>C, NC_000010.11:g.100986743T>G, NC_000010.10:g.102746500T>C, NC_000010.10:g.102746500T>G, NG_011646.1:g.5773A>G, NG_011646.1:g.5773A>C, NM_032112.3:c.471A>G, NM_032112.3:c.471A>C, NM_032112.2:c.471A>G, NM_032112.2:c.471A>C, NG_012624.1:g.4208T>C, NG_012624.1:g.4208T>G, XR_246111.6:n.525A>G, XR_246111.6:n.525A>C, XR_246111.5:n.525A>G, XR_246111.5:n.525A>C, XR_246111.4:n.538A>G, XR_246111.4:n.538A>C, XR_246111.3:n.538A>G, XR_246111.3:n.538A>C, XR_246111.2:n.537A>G, XR_246111.2:n.537A>C, XR_246111.1:n.537A>G, XR_246111.1:n.537A>C, XM_005270231.3:c.471A>G, XM_005270231.3:c.471A>C, XM_005270231.2:c.471A>G, XM_005270231.2:c.471A>C, XM_005270231.1:c.471A>G, XM_005270231.1:c.471A>C, XR_007062007.1:n.525A>G, XR_007062007.1:n.525A>C, NP_115488.2:p.Gln157His, XP_005270288.1:p.Gln157His

Select item 14899019575.

rs1489901957 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGTGAG>- [Show Flanks]
Chromosome:: 10:100991009 (GRCh38)
10:102750766 (GRCh37)
Canonical SPDI:: NC_000010.11:100991008:AAGTGAG:
Gene:: TWNK (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100991009_100991015del, NC_000010.10:g.102750766_102750772del, NG_011646.1:g.1501_1507del, NG_012624.1:g.8474_8480del, NM_001163812.2:c.1733_1739del, NM_001163812.1:c.1733_1739del, NM_001163814.2:c.371_377del, NM_001163814.1:c.371_377del, NR_160742.1:n.2459_2465del, NR_160740.1:n.2339_2345del, NR_160739.1:n.681_687del, NP_001157284.1:p.Lys578fs, NP_001157286.1:p.Lys124fs

Select item 14896575186.

rs1489657518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100993358 (GRCh38)
10:102753115 (GRCh37)
Canonical SPDI:: NC_000010.11:100993357:A:G
Gene:: TWNK (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100993358A>G, NC_000010.10:g.102753115A>G, NG_012624.1:g.10823A>G, NM_021830.5:c.1903A>G, NM_021830.4:c.1903A>G, NM_001163812.2:c.*198A>G, NM_001163812.1:c.*198A>G, NM_001163814.2:c.*198A>G, NM_001163814.1:c.*198A>G, NM_001163813.2:c.541A>G, NM_001163813.1:c.541A>G, NR_160738.1:n.2691A>G, NR_160742.1:n.2673A>G, NR_160740.1:n.2553A>G, NR_160741.1:n.2509A>G, NR_160739.1:n.895A>G, NM_001368275.1:c.541A>G, NP_068602.2:p.Lys635Glu, NP_001157285.1:p.Lys181Glu, NP_001355204.1:p.Lys181Glu

Select item 14895272447.

rs1489527244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:100982837 (GRCh38)
10:102742594 (GRCh37)
Canonical SPDI:: NC_000010.11:100982836:G:A,NC_000010.11:100982836:G:C
Gene:: SEMA4G (Varview), MRPL43 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
C=0.000354/10 (TOMMO)
HGVS:: NC_000010.11:g.100982837G>A, NC_000010.11:g.100982837G>C, NC_000010.10:g.102742594G>A, NC_000010.10:g.102742594G>C, NG_011646.1:g.9679C>T, NG_011646.1:g.9679C>G, NG_012624.1:g.302G>A, NG_012624.1:g.302G>C

Select item 14894767838.

rs1489476783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100984648 (GRCh38)
10:102744405 (GRCh37)
Canonical SPDI:: NC_000010.11:100984647:T:C
Gene:: SEMA4G (Varview), MRPL43 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100984648T>C, NC_000010.10:g.102744405T>C, NG_011646.1:g.7868A>G, NG_012624.1:g.2113T>C, NM_017893.4:c.*517T>C, NM_017893.3:c.*517T>C, XR_007061978.1:n.3622T>C, NR_172054.1:n.3607T>C, NM_001393925.1:c.*517T>C, NR_172056.1:n.3389T>C, NR_172057.1:n.3374T>C, NR_172052.1:n.3024T>C, NR_172053.1:n.3009T>C, NM_001203244.1:c.1864T>C, NP_001190173.1:p.Cys622Arg

Select item 14893841739.

rs1489384173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100991958 (GRCh38)
10:102751715 (GRCh37)
Canonical SPDI:: NC_000010.11:100991957:A:G
Gene:: TWNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100991958A>G, NC_000010.10:g.102751715A>G, NG_011646.1:g.558T>C, NG_012624.1:g.9423A>G

Select item 148900248110.

rs1489002481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100991148 (GRCh38)
10:102750905 (GRCh37)
Canonical SPDI:: NC_000010.11:100991147:G:A
Gene:: TWNK (Varview)
Functional Consequence:: 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_000010.11:g.100991148G>A, NC_000010.10:g.102750905G>A, NG_011646.1:g.1368C>T, NG_012624.1:g.8613G>A

Select item 148841807311.

rs1488418073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:100992561 (GRCh38)
10:102752318 (GRCh37)
Canonical SPDI:: NC_000010.11:100992560:C:G
Gene:: TWNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100992561C>G, NC_000010.10:g.102752318C>G, NG_012624.1:g.10026C>G

Select item 148801965412.

rs1488019654 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTG>- [Show Flanks]
Chromosome:: 10:100992228 (GRCh38)
10:102751985 (GRCh37)
Canonical SPDI:: NC_000010.11:100992227:TTTTG:
Gene:: TWNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02293/272 (ALFA)
-=0.00166/145 (GnomAD)
-=0.00812/14 (Korea1K)
-=0.00852/138 (TOMMO)
HGVS:: NC_000010.11:g.100992228_100992232del, NC_000010.10:g.102751985_102751989del, NG_011646.1:g.284_288del, NG_012624.1:g.9693_9697del

Select item 148785350413.

rs1487853504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100994930 (GRCh38)
10:102754687 (GRCh37)
Canonical SPDI:: NC_000010.11:100994929:A:G
Gene:: LZTS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.100994930A>G, NC_000010.10:g.102754687A>G, NG_012624.1:g.12395A>G

Select item 148753653614.

rs1487536536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:100987449 (GRCh38)
10:102747206 (GRCh37)
Canonical SPDI:: NC_000010.11:100987448:C:G,NC_000010.11:100987448:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00025/4 (TOMMO)
HGVS:: NC_000010.11:g.100987449C>G, NC_000010.11:g.100987449C>T, NC_000010.10:g.102747206C>G, NC_000010.10:g.102747206C>T, NG_011646.1:g.5067G>C, NG_011646.1:g.5067G>A, NM_176792.3:c.-6G>C, NM_176792.3:c.-6G>A, NM_176792.2:c.-6G>C, NM_176792.2:c.-6G>A, NM_032112.3:c.-6G>C, NM_032112.3:c.-6G>A, NM_032112.2:c.-6G>C, NM_032112.2:c.-6G>A, NM_176794.2:c.-6G>C, NM_176794.2:c.-6G>A, NM_176794.1:c.-6G>C, NM_176794.1:c.-6G>A, NM_001308396.2:c.-6G>C, NM_001308396.2:c.-6G>A, NM_001308396.1:c.-6G>C, NM_001308396.1:c.-6G>A, NM_176793.2:c.-6G>C, NM_176793.2:c.-6G>A, NM_176793.1:c.-6G>C, NM_176793.1:c.-6G>A, NM_001394982.1:c.-6G>C, NM_001394982.1:c.-6G>A, NM_001394981.1:c.-6G>C, NM_001394981.1:c.-6G>A, NM_001394983.1:c.-6G>C, NM_001394983.1:c.-6G>A, NG_012624.1:g.4914C>G, NG_012624.1:g.4914C>T, XR_246111.6:n.49G>C, XR_246111.6:n.49G>A, XR_246111.5:n.49G>C, XR_246111.5:n.49G>A, XR_246111.4:n.62G>C, XR_246111.4:n.62G>A, XR_246111.3:n.62G>C, XR_246111.3:n.62G>A, XR_246111.2:n.61G>C, XR_246111.2:n.61G>A, XR_246111.1:n.61G>C, XR_246111.1:n.61G>A, XM_005270231.3:c.-6G>C, XM_005270231.3:c.-6G>A, XM_005270231.2:c.-6G>C, XM_005270231.2:c.-6G>A, XM_005270231.1:c.-6G>C, XM_005270231.1:c.-6G>A, XR_007062007.1:n.49G>C, XR_007062007.1:n.49G>A

Select item 148742676515.

rs1487426765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100993862 (GRCh38)
10:102753619 (GRCh37)
Canonical SPDI:: NC_000010.11:100993861:G:A
Gene:: TWNK (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100993862G>A, NC_000010.10:g.102753619G>A, NG_012624.1:g.11327G>A, NM_021830.5:c.*352G>A, NM_021830.4:c.*352G>A, NM_001163812.2:c.*702G>A, NM_001163812.1:c.*702G>A, NM_001163814.2:c.*702G>A, NM_001163814.1:c.*702G>A, NM_001163813.2:c.*352G>A, NM_001163813.1:c.*352G>A, NR_160738.1:n.3195G>A, NR_160742.1:n.3177G>A, NR_160740.1:n.3057G>A, NR_160741.1:n.3013G>A, NR_160739.1:n.1399G>A, NM_001368275.1:c.*352G>A

Select item 148738955116.

rs1487389551 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:100983867 (GRCh38)
10:102743624 (GRCh37)
Canonical SPDI:: NC_000010.11:100983866:C:
Gene:: SEMA4G (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100983867del, NC_000010.10:g.102743624del, NG_011646.1:g.8649del, NG_012624.1:g.1332del, NM_017893.4:c.2268del, NM_017893.3:c.2268del, XR_007061978.1:n.2973del, NR_172054.1:n.2958del, NM_001393925.1:c.2253del, NR_172056.1:n.2740del, NR_172057.1:n.2725del, NR_172052.1:n.2375del, NR_172053.1:n.2360del, NP_060363.2:p.Ser757fs, NP_001380854.1:p.Ser752fs

Select item 148720381617.

rs1487203816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100990399 (GRCh38)
10:102750156 (GRCh37)
Canonical SPDI:: NC_000010.11:100990398:G:A
Gene:: TWNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100990399G>A, NC_000010.10:g.102750156G>A, NG_011646.1:g.2117C>T, NG_012624.1:g.7864G>A

Select item 148714526718.

rs1487145267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:100994198 (GRCh38)
10:102753955 (GRCh37)
Canonical SPDI:: NC_000010.11:100994197:A:T
Gene:: TWNK (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100994198A>T, NC_000010.10:g.102753955A>T, NG_012624.1:g.11663A>T, NM_021830.5:c.*688A>T, NM_021830.4:c.*688A>T, NM_001163812.2:c.*1038A>T, NM_001163812.1:c.*1038A>T, NM_001163814.2:c.*1038A>T, NM_001163814.1:c.*1038A>T, NM_001163813.2:c.*688A>T, NM_001163813.1:c.*688A>T, NR_160738.1:n.3531A>T, NR_160742.1:n.3513A>T, NR_160740.1:n.3393A>T, NR_160741.1:n.3349A>T, NR_160739.1:n.1735A>T, NM_001368275.1:c.*688A>T

Select item 148714484119.

rs1487144841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100995173 (GRCh38)
10:102754930 (GRCh37)
Canonical SPDI:: NC_000010.11:100995172:T:C
Gene:: LZTS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.100995173T>C, NC_000010.10:g.102754930T>C, NG_012624.1:g.12638T>C

Select item 148678537720.

rs1486785377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100985313 (GRCh38)
10:102745070 (GRCh37)
Canonical SPDI:: NC_000010.11:100985312:C:T
Gene:: SEMA4G (Varview), MRPL43 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100985313C>T, NC_000010.10:g.102745070C>T, NG_011646.1:g.7203G>A, NG_012624.1:g.2778C>T, NM_017893.4:c.*1182C>T, NM_017893.3:c.*1182C>T, XR_007061978.1:n.4287C>T, NR_172054.1:n.4272C>T, NM_001393925.1:c.*1182C>T, NR_172056.1:n.4054C>T, NR_172057.1:n.4039C>T, NR_172052.1:n.3689C>T, NR_172053.1:n.3674C>T, NM_001203244.1:c.*420C>T

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