SNP Links for Gene (Select 692084) - SNP

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Select item 14914547671.

rs1491454767 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 8:33512876 (GRCh38)
8:33370395 (GRCh37)
Canonical SPDI:: NC_000008.11:33512876::A,NC_000008.11:33512876::AA
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000008.11:g.33512876_33512877insA, NC_000008.11:g.33512876_33512877insAA, NC_000008.10:g.33370394_33370395insA, NC_000008.10:g.33370394_33370395insAA, NG_033257.1:g.5309_5310insT, NG_033257.1:g.5309_5310insTT, NM_025115.5:c.-264_-263insT, NM_025115.5:c.-264_-263insTT, NM_025115.4:c.-264_-263insT, NM_025115.4:c.-264_-263insTT, NM_025115.3:c.-264_-263insT, NM_025115.3:c.-264_-263insTT

Select item 14913124612.

rs1491312461 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:33512876 (GRCh38)
8:33370394 (GRCh37)
Canonical SPDI:: NC_000008.11:33512875:GT:
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.33512876_33512877del, NC_000008.10:g.33370394_33370395del, NG_033257.1:g.5309_5310del, NM_025115.5:c.-264_-263del, NM_025115.4:c.-264_-263del, NM_025115.3:c.-264_-263del

Select item 14909499473.

rs1490949947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33512584 (GRCh38)
8:33370102 (GRCh37)
Canonical SPDI:: NC_000008.11:33512583:T:C
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33512584T>C, NC_000008.10:g.33370102T>C, NG_033257.1:g.5602A>G, NM_025115.5:c.30A>G, NM_025115.4:c.30A>G, NM_025115.3:c.30A>G, NM_001102401.4:c.30A>G, NM_001102401.3:c.30A>G, NM_001102401.2:c.30A>G, NM_001330505.3:c.30A>G, NM_001330505.2:c.30A>G, NM_001330505.1:c.30A>G, NM_001265581.2:c.30A>G, NM_001265581.1:c.30A>G, XM_047422266.1:c.30A>G

Select item 14890050674.

rs1489005067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33512695 (GRCh38)
8:33370213 (GRCh37)
Canonical SPDI:: NC_000008.11:33512694:G:A
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33512695G>A, NC_000008.10:g.33370213G>A, NG_033257.1:g.5491C>T, NM_025115.5:c.-82C>T, NM_025115.4:c.-82C>T, NM_025115.3:c.-82C>T, NM_001102401.4:c.-82C>T, NM_001102401.3:c.-82C>T, NM_001102401.2:c.-82C>T, NM_001330505.3:c.-82C>T, NM_001330505.2:c.-82C>T, NM_001330505.1:c.-82C>T, NM_001265581.2:c.-82C>T, NM_001265581.1:c.-82C>T, XM_047422266.1:c.-82C>T

Select item 14861910335.

rs1486191033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:33513954 (GRCh38)
8:33371472 (GRCh37)
Canonical SPDI:: NC_000008.11:33513953:T:A
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_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_000008.11:g.33513954T>A, NC_000008.10:g.33371472T>A, NG_033257.1:g.4232A>T

Select item 14856496336.

rs1485649633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:33513270 (GRCh38)
8:33370788 (GRCh37)
Canonical SPDI:: NC_000008.11:33513269:T:G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000008.11:g.33513270T>G, NC_000008.10:g.33370788T>G, NG_033257.1:g.4916A>C

Select item 14845049457.

rs1484504945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33511887 (GRCh38)
8:33369405 (GRCh37)
Canonical SPDI:: NC_000008.11:33511886:C:T
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33511887C>T, NC_000008.10:g.33369405C>T, NG_033257.1:g.6299G>A

Select item 14841563558.

rs1484156355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33512449 (GRCh38)
8:33369967 (GRCh37)
Canonical SPDI:: NC_000008.11:33512448:G:A
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33512449G>A, NC_000008.10:g.33369967G>A, NG_033257.1:g.5737C>T, NM_025115.5:c.165C>T, NM_025115.4:c.165C>T, NM_025115.3:c.165C>T, NM_001102401.4:c.165C>T, NM_001102401.3:c.165C>T, NM_001102401.2:c.165C>T, NM_001330505.3:c.165C>T, NM_001330505.2:c.165C>T, NM_001330505.1:c.165C>T, NM_001265581.2:c.165C>T, NM_001265581.1:c.165C>T, XM_047422266.1:c.165C>T

Select item 14833585969.

rs1483358596 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:33512889 (GRCh38)
8:33370408 (GRCh37)
Canonical SPDI:: NC_000008.11:33512889::G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33512889_33512890insG, NC_000008.10:g.33370407_33370408insG, NG_033257.1:g.5296_5297insC, NM_025115.5:c.-277_-276insC, NM_025115.4:c.-277_-276insC, NM_025115.3:c.-277_-276insC

Select item 148299765910.

rs1482997659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33512418 (GRCh38)
8:33369936 (GRCh37)
Canonical SPDI:: NC_000008.11:33512417:T:C
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.33512418T>C, NC_000008.10:g.33369936T>C, NG_033257.1:g.5768A>G, NM_025115.5:c.196A>G, NM_025115.4:c.196A>G, NM_025115.3:c.196A>G, NM_001102401.4:c.196A>G, NM_001102401.3:c.196A>G, NM_001102401.2:c.196A>G, NM_001330505.3:c.196A>G, NM_001330505.2:c.196A>G, NM_001330505.1:c.196A>G, NM_001265581.2:c.196A>G, NM_001265581.1:c.196A>G, XM_047422266.1:c.196A>G, NP_079391.2:p.Arg66Gly, NP_001095871.1:p.Arg66Gly, NP_001317434.1:p.Arg66Gly, NP_001252510.1:p.Arg66Gly, XP_047278222.1:p.Arg66Gly

Select item 148236443811.

rs1482364438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:33512506 (GRCh38)
8:33370024 (GRCh37)
Canonical SPDI:: NC_000008.11:33512505:A:G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.33512506A>G, NC_000008.10:g.33370024A>G, NG_033257.1:g.5680T>C, NM_025115.5:c.108T>C, NM_025115.4:c.108T>C, NM_025115.3:c.108T>C, NM_001102401.4:c.108T>C, NM_001102401.3:c.108T>C, NM_001102401.2:c.108T>C, NM_001330505.3:c.108T>C, NM_001330505.2:c.108T>C, NM_001330505.1:c.108T>C, NM_001265581.2:c.108T>C, NM_001265581.1:c.108T>C, XM_047422266.1:c.108T>C

Select item 148223104412.

rs1482231044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:33512037 (GRCh38)
8:33369555 (GRCh37)
Canonical SPDI:: NC_000008.11:33512036:G:T
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.33512037G>T, NC_000008.10:g.33369555G>T, NG_033257.1:g.6149C>A, NM_025115.5:c.577C>A, NM_025115.4:c.577C>A, NM_025115.3:c.577C>A, NM_001102401.4:c.577C>A, NM_001102401.3:c.577C>A, NM_001102401.2:c.577C>A, NM_001330505.3:c.577C>A, NM_001330505.2:c.577C>A, NM_001330505.1:c.577C>A, NM_001265581.2:c.577C>A, NM_001265581.1:c.577C>A, XM_047422266.1:c.577C>A, NP_079391.2:p.His193Asn, NP_001095871.1:p.His193Asn, NP_001317434.1:p.His193Asn, NP_001252510.1:p.His193Asn, XP_047278222.1:p.His193Asn

Select item 148082535913.

rs1480825359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:33512375 (GRCh38)
8:33369893 (GRCh37)
Canonical SPDI:: NC_000008.11:33512374:T:G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33512375T>G, NC_000008.10:g.33369893T>G, NG_033257.1:g.5811A>C, NM_025115.5:c.239A>C, NM_025115.4:c.239A>C, NM_025115.3:c.239A>C, NM_001102401.4:c.239A>C, NM_001102401.3:c.239A>C, NM_001102401.2:c.239A>C, NM_001330505.3:c.239A>C, NM_001330505.2:c.239A>C, NM_001330505.1:c.239A>C, NM_001265581.2:c.239A>C, NM_001265581.1:c.239A>C, XM_047422266.1:c.239A>C, NP_079391.2:p.Glu80Ala, NP_001095871.1:p.Glu80Ala, NP_001317434.1:p.Glu80Ala, NP_001252510.1:p.Glu80Ala, XP_047278222.1:p.Glu80Ala

Select item 148026115414.

rs1480261154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:33512978 (GRCh38)
8:33370496 (GRCh37)
Canonical SPDI:: NC_000008.11:33512977:A:G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.33512978A>G, NC_000008.10:g.33370496A>G, NG_033257.1:g.5208T>C, NM_025115.5:c.-365T>C, NM_025115.4:c.-365T>C, NM_025115.3:c.-365T>C, NM_001265581.2:c.-118T>C, NM_001265581.1:c.-118T>C, XM_047422266.1:c.-118T>C

Select item 147972656915.

rs1479726569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33511560 (GRCh38)
8:33369078 (GRCh37)
Canonical SPDI:: NC_000008.11:33511559:G:A
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.33511560G>A, NC_000008.10:g.33369078G>A, NG_033257.1:g.6626C>T

Select item 147928112216.

rs1479281122 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:33513428 (GRCh38)
8:33370946 (GRCh37)
Canonical SPDI:: NC_000008.11:33513427:AAA:AA,NC_000008.11:33513427:AAA:AAAA
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.33513430del, NC_000008.11:g.33513430dup, NC_000008.10:g.33370948del, NC_000008.10:g.33370948dup, NG_033257.1:g.4758del, NG_033257.1:g.4758dup

Select item 147495153217.

rs1474951532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:33513333 (GRCh38)
8:33370851 (GRCh37)
Canonical SPDI:: NC_000008.11:33513332:A:C
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33513333A>C, NC_000008.10:g.33370851A>C, NG_033257.1:g.4853T>G

Select item 147356535418.

rs1473565354 has merged into rs61291473 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:33512892 (GRCh38)
8:33370410 (GRCh37)
Canonical SPDI:: NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:33512877:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.134/671 (1000Genomes)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000008.11:g.33512892_33512897del, NC_000008.11:g.33512893_33512897del, NC_000008.11:g.33512894_33512897del, NC_000008.11:g.33512895_33512897del, NC_000008.11:g.33512896_33512897del, NC_000008.11:g.33512897del, NC_000008.11:g.33512897dup, NC_000008.11:g.33512896_33512897dup, NC_000008.11:g.33512895_33512897dup, NC_000008.11:g.33512893_33512897dup, NC_000008.11:g.33512892_33512897dup, NC_000008.11:g.33512891_33512897dup, NC_000008.11:g.33512890_33512897dup, NC_000008.11:g.33512889_33512897dup, NC_000008.11:g.33512888_33512897dup, NC_000008.11:g.33512880_33512897dup, NC_000008.10:g.33370410_33370415del, NC_000008.10:g.33370411_33370415del, NC_000008.10:g.33370412_33370415del, NC_000008.10:g.33370413_33370415del, NC_000008.10:g.33370414_33370415del, NC_000008.10:g.33370415del, NC_000008.10:g.33370415dup, NC_000008.10:g.33370414_33370415dup, NC_000008.10:g.33370413_33370415dup, NC_000008.10:g.33370411_33370415dup, NC_000008.10:g.33370410_33370415dup, NC_000008.10:g.33370409_33370415dup, NC_000008.10:g.33370408_33370415dup, NC_000008.10:g.33370407_33370415dup, NC_000008.10:g.33370406_33370415dup, NC_000008.10:g.33370398_33370415dup, NG_033257.1:g.5303_5308del, NG_033257.1:g.5304_5308del, NG_033257.1:g.5305_5308del, NG_033257.1:g.5306_5308del, NG_033257.1:g.5307_5308del, NG_033257.1:g.5308del, NG_033257.1:g.5308dup, NG_033257.1:g.5307_5308dup, NG_033257.1:g.5306_5308dup, NG_033257.1:g.5304_5308dup, NG_033257.1:g.5303_5308dup, NG_033257.1:g.5302_5308dup, NG_033257.1:g.5301_5308dup, NG_033257.1:g.5300_5308dup, NG_033257.1:g.5299_5308dup, NG_033257.1:g.5291_5308dup, NM_025115.5:c.-270_-265del, NM_025115.5:c.-269_-265del, NM_025115.5:c.-268_-265del, NM_025115.5:c.-267_-265del, NM_025115.5:c.-266_-265del, NM_025115.5:c.-265del, NM_025115.5:c.-265dup, NM_025115.5:c.-266_-265dup, NM_025115.5:c.-267_-265dup, NM_025115.5:c.-269_-265dup, NM_025115.5:c.-270_-265dup, NM_025115.5:c.-271_-265dup, NM_025115.5:c.-272_-265dup, NM_025115.5:c.-273_-265dup, NM_025115.5:c.-274_-265dup, NM_025115.5:c.-282_-265dup, NM_025115.4:c.-270_-265del, NM_025115.4:c.-269_-265del, NM_025115.4:c.-268_-265del, NM_025115.4:c.-267_-265del, NM_025115.4:c.-266_-265del, NM_025115.4:c.-265del, NM_025115.4:c.-265dup, NM_025115.4:c.-266_-265dup, NM_025115.4:c.-267_-265dup, NM_025115.4:c.-269_-265dup, NM_025115.4:c.-270_-265dup, NM_025115.4:c.-271_-265dup, NM_025115.4:c.-272_-265dup, NM_025115.4:c.-273_-265dup, NM_025115.4:c.-274_-265dup, NM_025115.4:c.-282_-265dup, NM_025115.3:c.-270_-265del, NM_025115.3:c.-269_-265del, NM_025115.3:c.-268_-265del, NM_025115.3:c.-267_-265del, NM_025115.3:c.-266_-265del, NM_025115.3:c.-265del, NM_025115.3:c.-265dup, NM_025115.3:c.-266_-265dup, NM_025115.3:c.-267_-265dup, NM_025115.3:c.-269_-265dup, NM_025115.3:c.-270_-265dup, NM_025115.3:c.-271_-265dup, NM_025115.3:c.-272_-265dup, NM_025115.3:c.-273_-265dup, NM_025115.3:c.-274_-265dup, NM_025115.3:c.-282_-265dup

Select item 147279845419.

rs1472798454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33511977 (GRCh38)
8:33369495 (GRCh37)
Canonical SPDI:: NC_000008.11:33511976:C:T
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33511977C>T, NC_000008.10:g.33369495C>T, NG_033257.1:g.6209G>A, NM_025115.5:c.637G>A, NM_025115.4:c.637G>A, NM_025115.3:c.637G>A, NM_001102401.4:c.637G>A, NM_001102401.3:c.637G>A, NM_001102401.2:c.637G>A, NM_001330505.3:c.637G>A, NM_001330505.2:c.637G>A, NM_001330505.1:c.637G>A, NM_001265581.2:c.637G>A, NM_001265581.1:c.637G>A, XM_047422266.1:c.637G>A, NP_079391.2:p.Asp213Asn, NP_001095871.1:p.Asp213Asn, NP_001317434.1:p.Asp213Asn, NP_001252510.1:p.Asp213Asn, XP_047278222.1:p.Asp213Asn

Select item 147212796020.

rs1472127960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:33512234 (GRCh38)
8:33369752 (GRCh37)
Canonical SPDI:: NC_000008.11:33512233:A:G
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33512234A>G, NC_000008.10:g.33369752A>G, NG_033257.1:g.5952T>C, NM_025115.5:c.380T>C, NM_025115.4:c.380T>C, NM_025115.3:c.380T>C, NM_001102401.4:c.380T>C, NM_001102401.3:c.380T>C, NM_001102401.2:c.380T>C, NM_001330505.3:c.380T>C, NM_001330505.2:c.380T>C, NM_001330505.1:c.380T>C, NM_001265581.2:c.380T>C, NM_001265581.1:c.380T>C, XM_047422266.1:c.380T>C, NP_079391.2:p.Val127Ala, NP_001095871.1:p.Val127Ala, NP_001317434.1:p.Val127Ala, NP_001252510.1:p.Val127Ala, XP_047278222.1:p.Val127Ala

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