SNP Links for Protein (Select 1060099015) - SNP

Links from Protein

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Select item 14909499471.

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 14870267192.

rs1487026719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33500390 (GRCh38)
8:33357908 (GRCh37)
Canonical SPDI:: NC_000008.11:33500389:G:A
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33500390G>A, NC_000008.10:g.33357908G>A, NG_033257.1:g.17796C>T, NM_025115.5:c.1360C>T, NM_025115.4:c.1360C>T, NM_025115.3:c.1360C>T, NM_001102401.4:c.1360C>T, NM_001102401.3:c.1360C>T, NM_001102401.2:c.1360C>T, NM_001330505.3:c.1267C>T, NM_001330505.2:c.1267C>T, NM_001330505.1:c.1267C>T, NM_001265581.2:c.1360C>T, NM_001265581.1:c.1360C>T, NM_032509.4:c.*1761G>A, NM_032509.3:c.*1761G>A, XM_047422266.1:c.1267C>T

Select item 14864771223.

rs1486477122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33503501 (GRCh38)
8:33361019 (GRCh37)
Canonical SPDI:: NC_000008.11:33503500:T:C
Gene:: TTI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33503501T>C, NC_000008.10:g.33361019T>C, NG_033257.1:g.14685A>G, NM_025115.5:c.1187A>G, NM_025115.4:c.1187A>G, NM_025115.3:c.1187A>G, NM_001102401.4:c.1187A>G, NM_001102401.3:c.1187A>G, NM_001102401.2:c.1187A>G, NM_001330505.3:c.1094A>G, NM_001330505.2:c.1094A>G, NM_001330505.1:c.1094A>G, NM_001265581.2:c.1187A>G, NM_001265581.1:c.1187A>G, XM_047422266.1:c.1094A>G, NP_079391.2:p.Asp396Gly, NP_001095871.1:p.Asp396Gly, NP_001317434.1:p.Asp365Gly, NP_001252510.1:p.Asp396Gly, XP_047278222.1:p.Asp365Gly

Select item 14864019374.

rs1486401937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:33500466 (GRCh38)
8:33357984 (GRCh37)
Canonical SPDI:: NC_000008.11:33500465:T:G
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.33500466T>G, NC_000008.10:g.33357984T>G, NG_033257.1:g.17720A>C, NM_025115.5:c.1284A>C, NM_025115.4:c.1284A>C, NM_025115.3:c.1284A>C, NM_001102401.4:c.1284A>C, NM_001102401.3:c.1284A>C, NM_001102401.2:c.1284A>C, NM_001330505.3:c.1191A>C, NM_001330505.2:c.1191A>C, NM_001330505.1:c.1191A>C, NM_001265581.2:c.1284A>C, NM_001265581.1:c.1284A>C, NM_032509.4:c.*1837T>G, NM_032509.3:c.*1837T>G, XM_047422266.1:c.1191A>C, NP_079391.2:p.Leu428Phe, NP_001095871.1:p.Leu428Phe, NP_001317434.1:p.Leu397Phe, NP_001252510.1:p.Leu428Phe, XP_047278222.1:p.Leu397Phe

Select item 14853871485.

rs1485387148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33499238 (GRCh38)
8:33356756 (GRCh37)
Canonical SPDI:: NC_000008.11:33499237:T:C
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33499238T>C, NC_000008.10:g.33356756T>C, NG_033257.1:g.18948A>G, NM_025115.5:c.1462A>G, NM_025115.4:c.1462A>G, NM_025115.3:c.1462A>G, NM_001102401.4:c.1462A>G, NM_001102401.3:c.1462A>G, NM_001102401.2:c.1462A>G, NM_001330505.3:c.1369A>G, NM_001330505.2:c.1369A>G, NM_001330505.1:c.1369A>G, NM_001265581.2:c.1462A>G, NM_001265581.1:c.1462A>G, NM_032509.4:c.*609T>C, NM_032509.3:c.*609T>C, XM_047422266.1:c.1369A>G, NP_079391.2:p.Lys488Glu, NP_001095871.1:p.Lys488Glu, NP_001317434.1:p.Lys457Glu, NP_001252510.1:p.Lys488Glu, XP_047278222.1:p.Lys457Glu

Select item 14847754216.

rs1484775421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33503508 (GRCh38)
8:33361026 (GRCh37)
Canonical SPDI:: NC_000008.11:33503507:C:T
Gene:: TTI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33503508C>T, NC_000008.10:g.33361026C>T, NG_033257.1:g.14678G>A, NM_025115.5:c.1180G>A, NM_025115.4:c.1180G>A, NM_025115.3:c.1180G>A, NM_001102401.4:c.1180G>A, NM_001102401.3:c.1180G>A, NM_001102401.2:c.1180G>A, NM_001330505.3:c.1087G>A, NM_001330505.2:c.1087G>A, NM_001330505.1:c.1087G>A, NM_001265581.2:c.1180G>A, NM_001265581.1:c.1180G>A, XM_047422266.1:c.1087G>A, NP_079391.2:p.Val394Ile, NP_001095871.1:p.Val394Ile, NP_001317434.1:p.Val363Ile, NP_001252510.1:p.Val394Ile, XP_047278222.1:p.Val363Ile

Select item 14841563557.

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 14829976598.

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 14823644389.

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 148223104410.

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 148082535911.

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 148000160312.

rs1480001603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:33500475 (GRCh38)
8:33357993 (GRCh37)
Canonical SPDI:: NC_000008.11:33500474:A:G
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.33500475A>G, NC_000008.10:g.33357993A>G, NG_033257.1:g.17711T>C, NM_025115.5:c.1275T>C, NM_025115.4:c.1275T>C, NM_025115.3:c.1275T>C, NM_001102401.4:c.1275T>C, NM_001102401.3:c.1275T>C, NM_001102401.2:c.1275T>C, NM_001330505.3:c.1182T>C, NM_001330505.2:c.1182T>C, NM_001330505.1:c.1182T>C, NM_001265581.2:c.1275T>C, NM_001265581.1:c.1275T>C, NM_032509.4:c.*1846A>G, NM_032509.3:c.*1846A>G, XM_047422266.1:c.1182T>C

Select item 147571690613.

rs1475716906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:33499272 (GRCh38)
8:33356790 (GRCh37)
Canonical SPDI:: NC_000008.11:33499271:G:C
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33499272G>C, NC_000008.10:g.33356790G>C, NG_033257.1:g.18914C>G, NM_025115.5:c.1428C>G, NM_025115.4:c.1428C>G, NM_025115.3:c.1428C>G, NM_001102401.4:c.1428C>G, NM_001102401.3:c.1428C>G, NM_001102401.2:c.1428C>G, NM_001330505.3:c.1335C>G, NM_001330505.2:c.1335C>G, NM_001330505.1:c.1335C>G, NM_001265581.2:c.1428C>G, NM_001265581.1:c.1428C>G, NM_032509.4:c.*643G>C, NM_032509.3:c.*643G>C, XM_047422266.1:c.1335C>G

Select item 147279845414.

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 147212796015.

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

Select item 146756701316.

rs1467567013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33500396 (GRCh38)
8:33357914 (GRCh37)
Canonical SPDI:: NC_000008.11:33500395:T:C
Gene:: TTI2 (Varview), MAK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33500396T>C, NC_000008.10:g.33357914T>C, NG_033257.1:g.17790A>G, NM_025115.5:c.1354A>G, NM_025115.4:c.1354A>G, NM_025115.3:c.1354A>G, NM_001102401.4:c.1354A>G, NM_001102401.3:c.1354A>G, NM_001102401.2:c.1354A>G, NM_001330505.3:c.1261A>G, NM_001330505.2:c.1261A>G, NM_001330505.1:c.1261A>G, NM_001265581.2:c.1354A>G, NM_001265581.1:c.1354A>G, NM_032509.4:c.*1767T>C, NM_032509.3:c.*1767T>C, XM_047422266.1:c.1261A>G, NP_079391.2:p.Ser452Gly, NP_001095871.1:p.Ser452Gly, NP_001317434.1:p.Ser421Gly, NP_001252510.1:p.Ser452Gly, XP_047278222.1:p.Ser421Gly

Select item 146590214317.

rs1465902143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33512357 (GRCh38)
8:33369875 (GRCh37)
Canonical SPDI:: NC_000008.11:33512356:G:A
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_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.33512357G>A, NC_000008.10:g.33369875G>A, NG_033257.1:g.5829C>T, NM_025115.5:c.257C>T, NM_025115.4:c.257C>T, NM_025115.3:c.257C>T, NM_001102401.4:c.257C>T, NM_001102401.3:c.257C>T, NM_001102401.2:c.257C>T, NM_001330505.3:c.257C>T, NM_001330505.2:c.257C>T, NM_001330505.1:c.257C>T, NM_001265581.2:c.257C>T, NM_001265581.1:c.257C>T, XM_047422266.1:c.257C>T, NP_079391.2:p.Ala86Val, NP_001095871.1:p.Ala86Val, NP_001317434.1:p.Ala86Val, NP_001252510.1:p.Ala86Val, XP_047278222.1:p.Ala86Val

Select item 146433778218.

rs1464337782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33512134 (GRCh38)
8:33369652 (GRCh37)
Canonical SPDI:: NC_000008.11:33512133:C:T
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33512134C>T, NC_000008.10:g.33369652C>T, NG_033257.1:g.6052G>A, NM_025115.5:c.480G>A, NM_025115.4:c.480G>A, NM_025115.3:c.480G>A, NM_001102401.4:c.480G>A, NM_001102401.3:c.480G>A, NM_001102401.2:c.480G>A, NM_001330505.3:c.480G>A, NM_001330505.2:c.480G>A, NM_001330505.1:c.480G>A, NM_001265581.2:c.480G>A, NM_001265581.1:c.480G>A, XM_047422266.1:c.480G>A

Select item 145967603319.

rs1459676033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33503539 (GRCh38)
8:33361057 (GRCh37)
Canonical SPDI:: NC_000008.11:33503538:C:T
Gene:: TTI2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33503539C>T, NC_000008.10:g.33361057C>T, NG_033257.1:g.14647G>A, NM_025115.5:c.1149G>A, NM_025115.4:c.1149G>A, NM_025115.3:c.1149G>A, NM_001102401.4:c.1149G>A, NM_001102401.3:c.1149G>A, NM_001102401.2:c.1149G>A, NM_001330505.3:c.1056G>A, NM_001330505.2:c.1056G>A, NM_001330505.1:c.1056G>A, NM_001265581.2:c.1149G>A, NM_001265581.1:c.1149G>A, XM_047422266.1:c.1056G>A

Select item 145680878920.

rs1456808789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33512141 (GRCh38)
8:33369659 (GRCh37)
Canonical SPDI:: NC_000008.11:33512140:C:T
Gene:: TTI2 (Varview), SNORD13 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.33512141C>T, NC_000008.10:g.33369659C>T, NG_033257.1:g.6045G>A, NM_025115.5:c.473G>A, NM_025115.4:c.473G>A, NM_025115.3:c.473G>A, NM_001102401.4:c.473G>A, NM_001102401.3:c.473G>A, NM_001102401.2:c.473G>A, NM_001330505.3:c.473G>A, NM_001330505.2:c.473G>A, NM_001330505.1:c.473G>A, NM_001265581.2:c.473G>A, NM_001265581.1:c.473G>A, XM_047422266.1:c.473G>A, NP_079391.2:p.Ser158Asn, NP_001095871.1:p.Ser158Asn, NP_001317434.1:p.Ser158Asn, NP_001252510.1:p.Ser158Asn, XP_047278222.1:p.Ser158Asn

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