SNP Links for Protein (Select 239787844) - SNP

Links from Protein

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Select item 14897638281.

rs1489763828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:100321770 (GRCh38)
9:103084052 (GRCh37)
Canonical SPDI:: NC_000009.12:100321769:A:T
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.100321770A>T, NC_000009.11:g.103084052A>T, NM_017746.4:c.1981T>A, NM_017746.3:c.1981T>A, XM_011518798.3:c.1606T>A, XM_011518798.2:c.1606T>A, XM_011518798.1:c.1606T>A, NM_001161584.2:c.1990T>A, NM_001161584.1:c.1990T>A, XM_047423523.1:c.1981T>A, XM_047423524.1:c.*11T>A, NP_060216.2:p.Ser661Thr, XP_011517100.1:p.Ser536Thr, NP_001155056.1:p.Ser664Thr, XP_047279479.1:p.Ser661Thr

Select item 14884943122.

rs1488494312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:100346798 (GRCh38)
9:103109080 (GRCh37)
Canonical SPDI:: NC_000009.12:100346797:G:A,NC_000009.12:100346797:G:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.100346798G>A, NC_000009.12:g.100346798G>C, NC_000009.11:g.103109080G>A, NC_000009.11:g.103109080G>C, NM_017746.4:c.789C>T, NM_017746.4:c.789C>G, NM_017746.3:c.789C>T, NM_017746.3:c.789C>G, XM_011518798.3:c.789C>T, XM_011518798.3:c.789C>G, XM_011518798.2:c.789C>T, XM_011518798.2:c.789C>G, XM_011518798.1:c.789C>T, XM_011518798.1:c.789C>G, NM_001161584.2:c.798C>T, NM_001161584.2:c.798C>G, NM_001161584.1:c.798C>T, NM_001161584.1:c.798C>G, XM_047423523.1:c.789C>T, XM_047423523.1:c.789C>G, XM_047423524.1:c.789C>T, XM_047423524.1:c.789C>G, NP_060216.2:p.Asn263Lys, XP_011517100.1:p.Asn263Lys, NP_001155056.1:p.Asn266Lys, XP_047279479.1:p.Asn263Lys, XP_047279480.1:p.Asn263Lys

Select item 14883888833.

rs1488388883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:100330113 (GRCh38)
9:103092395 (GRCh37)
Canonical SPDI:: NC_000009.12:100330112:G:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100330113G>C, NC_000009.11:g.103092395G>C, NM_017746.4:c.1307C>G, NM_017746.3:c.1307C>G, NM_001161584.2:c.1316C>G, NM_001161584.1:c.1316C>G, XM_047423523.1:c.1307C>G, XM_047423524.1:c.1307C>G, NP_060216.2:p.Thr436Arg, NP_001155056.1:p.Thr439Arg, XP_047279479.1:p.Thr436Arg, XP_047279480.1:p.Thr436Arg

Select item 14865394274.

rs1486539427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:100349186 (GRCh38)
9:103111468 (GRCh37)
Canonical SPDI:: NC_000009.12:100349185:T:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.100349186T>C, NC_000009.11:g.103111468T>C, NM_017746.4:c.178A>G, NM_017746.3:c.178A>G, XM_011518798.3:c.178A>G, XM_011518798.2:c.178A>G, XM_011518798.1:c.178A>G, NM_001161584.2:c.187A>G, NM_001161584.1:c.187A>G, XM_047423523.1:c.178A>G, XM_047423524.1:c.178A>G, NP_060216.2:p.Lys60Glu, XP_011517100.1:p.Lys60Glu, NP_001155056.1:p.Lys63Glu, XP_047279479.1:p.Lys60Glu, XP_047279480.1:p.Lys60Glu

Select item 14847911575.

rs1484791157 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 9:100329164 (GRCh38)
9:103091446 (GRCh37)
Canonical SPDI:: NC_000009.12:100329159:TTCTTCT:TTCT
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCT=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100329161TCT[1], NC_000009.11:g.103091443TCT[1], NM_017746.4:c.1600GAA[1], NM_017746.3:c.1600GAA[1], NM_001161584.2:c.1609GAA[1], NM_001161584.1:c.1609GAA[1], XM_047423523.1:c.1600GAA[1], XM_047423524.1:c.1600GAA[1], NP_060216.2:p.Glu535del, NP_001155056.1:p.Glu538del, XP_047279479.1:p.Glu535del, XP_047279480.1:p.Glu535del

Select item 14841923936.

rs1484192393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:100346924 (GRCh38)
9:103109206 (GRCh37)
Canonical SPDI:: NC_000009.12:100346923:C:A,NC_000009.12:100346923:C:T
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.100346924C>A, NC_000009.12:g.100346924C>T, NC_000009.11:g.103109206C>A, NC_000009.11:g.103109206C>T, NM_017746.4:c.663G>T, NM_017746.4:c.663G>A, NM_017746.3:c.663G>T, NM_017746.3:c.663G>A, XM_011518798.3:c.663G>T, XM_011518798.3:c.663G>A, XM_011518798.2:c.663G>T, XM_011518798.2:c.663G>A, XM_011518798.1:c.663G>T, XM_011518798.1:c.663G>A, NM_001161584.2:c.672G>T, NM_001161584.2:c.672G>A, NM_001161584.1:c.672G>T, NM_001161584.1:c.672G>A, XM_047423523.1:c.663G>T, XM_047423523.1:c.663G>A, XM_047423524.1:c.663G>T, XM_047423524.1:c.663G>A, NP_060216.2:p.Gln221His, XP_011517100.1:p.Gln221His, NP_001155056.1:p.Gln224His, XP_047279479.1:p.Gln221His, XP_047279480.1:p.Gln221His

Select item 14840304417.

rs1484030441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:100308553 (GRCh38)
9:103070835 (GRCh37)
Canonical SPDI:: NC_000009.12:100308552:A:G
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100308553A>G, NC_000009.11:g.103070835A>G, NM_017746.4:c.2412T>C, NM_017746.3:c.2412T>C, XM_011518798.3:c.2037T>C, XM_011518798.2:c.2037T>C, XM_011518798.1:c.2037T>C, NM_001161584.2:c.2421T>C, NM_001161584.1:c.2421T>C

Select item 14829580658.

rs1482958065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:100329246 (GRCh38)
9:103091528 (GRCh37)
Canonical SPDI:: NC_000009.12:100329245:A:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100329246A>C, NC_000009.11:g.103091528A>C, NM_017746.4:c.1519T>G, NM_017746.3:c.1519T>G, NM_001161584.2:c.1528T>G, NM_001161584.1:c.1528T>G, XM_047423523.1:c.1519T>G, XM_047423524.1:c.1519T>G, NP_060216.2:p.Tyr507Asp, NP_001155056.1:p.Tyr510Asp, XP_047279479.1:p.Tyr507Asp, XP_047279480.1:p.Tyr507Asp

Select item 14829245669.

rs1482924566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:100308505 (GRCh38)
9:103070787 (GRCh37)
Canonical SPDI:: NC_000009.12:100308504:T:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.100308505T>C, NC_000009.11:g.103070787T>C, NM_017746.4:c.2460A>G, NM_017746.3:c.2460A>G, XM_011518798.3:c.2085A>G, XM_011518798.2:c.2085A>G, XM_011518798.1:c.2085A>G, NM_001161584.2:c.2469A>G, NM_001161584.1:c.2469A>G

Select item 148119498910.

rs1481194989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:100308635 (GRCh38)
9:103070917 (GRCh37)
Canonical SPDI:: NC_000009.12:100308634:C:T
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.100308635C>T, NC_000009.11:g.103070917C>T, NM_017746.4:c.2330G>A, NM_017746.3:c.2330G>A, XM_011518798.3:c.1955G>A, XM_011518798.2:c.1955G>A, XM_011518798.1:c.1955G>A, NM_001161584.2:c.2339G>A, NM_001161584.1:c.2339G>A, NP_060216.2:p.Gly777Asp, XP_011517100.1:p.Gly652Asp, NP_001155056.1:p.Gly780Asp

Select item 147844264511.

rs1478442645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:100340310 (GRCh38)
9:103102592 (GRCh37)
Canonical SPDI:: NC_000009.12:100340309:A:G
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.100340310A>G, NC_000009.11:g.103102592A>G, NM_017746.4:c.1197T>C, NM_017746.3:c.1197T>C, XM_011518798.3:c.1197T>C, XM_011518798.2:c.1197T>C, XM_011518798.1:c.1197T>C, NM_001161584.2:c.1206T>C, NM_001161584.1:c.1206T>C, XM_047423523.1:c.1197T>C, XM_047423524.1:c.1197T>C

Select item 147807588212.

rs1478075882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:100346726 (GRCh38)
9:103109008 (GRCh37)
Canonical SPDI:: NC_000009.12:100346725:T:C,NC_000009.12:100346725:T:G
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100346726T>C, NC_000009.12:g.100346726T>G, NC_000009.11:g.103109008T>C, NC_000009.11:g.103109008T>G, NM_017746.4:c.861A>G, NM_017746.4:c.861A>C, NM_017746.3:c.861A>G, NM_017746.3:c.861A>C, XM_011518798.3:c.861A>G, XM_011518798.3:c.861A>C, XM_011518798.2:c.861A>G, XM_011518798.2:c.861A>C, XM_011518798.1:c.861A>G, XM_011518798.1:c.861A>C, NM_001161584.2:c.870A>G, NM_001161584.2:c.870A>C, NM_001161584.1:c.870A>G, NM_001161584.1:c.870A>C, XM_047423523.1:c.861A>G, XM_047423523.1:c.861A>C, XM_047423524.1:c.861A>G, XM_047423524.1:c.861A>C

Select item 147744084613.

rs1477440846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:100320397 (GRCh38)
9:103082679 (GRCh37)
Canonical SPDI:: NC_000009.12:100320396:C:T
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.100320397C>T, NC_000009.11:g.103082679C>T, NM_017746.4:c.2070G>A, NM_017746.3:c.2070G>A, XM_011518798.3:c.1695G>A, XM_011518798.2:c.1695G>A, XM_011518798.1:c.1695G>A, NM_001161584.2:c.2079G>A, NM_001161584.1:c.2079G>A, XM_047423523.1:c.2070G>A

Select item 147648849514.

rs1476488495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:100327876 (GRCh38)
9:103090158 (GRCh37)
Canonical SPDI:: NC_000009.12:100327875:G:A
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100327876G>A, NC_000009.11:g.103090158G>A, NM_017746.4:c.1712C>T, NM_017746.3:c.1712C>T, XM_011518798.3:c.1337C>T, XM_011518798.2:c.1337C>T, XM_011518798.1:c.1337C>T, NM_001161584.2:c.1721C>T, NM_001161584.1:c.1721C>T, XM_047423523.1:c.1712C>T, XM_047423524.1:c.1712C>T, NP_060216.2:p.Thr571Ile, XP_011517100.1:p.Thr446Ile, NP_001155056.1:p.Thr574Ile, XP_047279479.1:p.Thr571Ile, XP_047279480.1:p.Thr571Ile

Select item 147605539115.

rs1476055391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:100330123 (GRCh38)
9:103092405 (GRCh37)
Canonical SPDI:: NC_000009.12:100330122:G:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100330123G>C, NC_000009.11:g.103092405G>C, NM_017746.4:c.1297C>G, NM_017746.3:c.1297C>G, NM_001161584.2:c.1306C>G, NM_001161584.1:c.1306C>G, XM_047423523.1:c.1297C>G, XM_047423524.1:c.1297C>G, NP_060216.2:p.Leu433Val, NP_001155056.1:p.Leu436Val, XP_047279479.1:p.Leu433Val, XP_047279480.1:p.Leu433Val

Select item 147442889416.

rs1474428894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:100346143 (GRCh38)
9:103108425 (GRCh37)
Canonical SPDI:: NC_000009.12:100346142:T:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100346143T>C, NC_000009.11:g.103108425T>C, NM_017746.4:c.1066A>G, NM_017746.3:c.1066A>G, XM_011518798.3:c.1066A>G, XM_011518798.2:c.1066A>G, XM_011518798.1:c.1066A>G, NM_001161584.2:c.1075A>G, NM_001161584.1:c.1075A>G, XM_047423523.1:c.1066A>G, XM_047423524.1:c.1066A>G, NP_060216.2:p.Met356Val, XP_011517100.1:p.Met356Val, NP_001155056.1:p.Met359Val, XP_047279479.1:p.Met356Val, XP_047279480.1:p.Met356Val

Select item 147435261617.

rs1474352616 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:100330065 (GRCh38)
9:103092347 (GRCh37)
Canonical SPDI:: NC_000009.12:100330064:TT:T
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
HGVS:: NC_000009.12:g.100330066del, NC_000009.11:g.103092348del, NM_017746.4:c.1355del, NM_017746.3:c.1355del, NM_001161584.2:c.1364del, NM_001161584.1:c.1364del, XM_047423523.1:c.1355del, XM_047423524.1:c.1355del, NP_060216.2:p.Lys452fs, NP_001155056.1:p.Lys455fs, XP_047279479.1:p.Lys452fs, XP_047279480.1:p.Lys452fs

Select item 147246334318.

rs1472463343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:100329175 (GRCh38)
9:103091457 (GRCh37)
Canonical SPDI:: NC_000009.12:100329174:G:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100329175G>C, NC_000009.11:g.103091457G>C, NM_017746.4:c.1590C>G, NM_017746.3:c.1590C>G, NM_001161584.2:c.1599C>G, NM_001161584.1:c.1599C>G, XM_047423523.1:c.1590C>G, XM_047423524.1:c.1590C>G, NP_060216.2:p.Ile530Met, NP_001155056.1:p.Ile533Met, XP_047279479.1:p.Ile530Met, XP_047279480.1:p.Ile530Met

Select item 147090484319.

rs1470904843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:100329188 (GRCh38)
9:103091470 (GRCh37)
Canonical SPDI:: NC_000009.12:100329187:A:C
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.100329188A>C, NC_000009.11:g.103091470A>C, NM_017746.4:c.1577T>G, NM_017746.3:c.1577T>G, NM_001161584.2:c.1586T>G, NM_001161584.1:c.1586T>G, XM_047423523.1:c.1577T>G, XM_047423524.1:c.1577T>G, NP_060216.2:p.Phe526Cys, NP_001155056.1:p.Phe529Cys, XP_047279479.1:p.Phe526Cys, XP_047279480.1:p.Phe526Cys

Select item 146886149220.

rs1468861492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:100310362 (GRCh38)
9:103072644 (GRCh37)
Canonical SPDI:: NC_000009.12:100310361:T:C,NC_000009.12:100310361:T:G
Gene:: TEX10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.100310362T>C, NC_000009.12:g.100310362T>G, NC_000009.11:g.103072644T>C, NC_000009.11:g.103072644T>G, NM_017746.4:c.2220A>G, NM_017746.4:c.2220A>C, NM_017746.3:c.2220A>G, NM_017746.3:c.2220A>C, XM_011518798.3:c.1845A>G, XM_011518798.3:c.1845A>C, XM_011518798.2:c.1845A>G, XM_011518798.2:c.1845A>C, XM_011518798.1:c.1845A>G, XM_011518798.1:c.1845A>C, NM_001161584.2:c.2229A>G, NM_001161584.2:c.2229A>C, NM_001161584.1:c.2229A>G, NM_001161584.1:c.2229A>C, XM_047423523.1:c.2220A>G, XM_047423523.1:c.2220A>C, NP_060216.2:p.Leu740Phe, XP_011517100.1:p.Leu615Phe, NP_001155056.1:p.Leu743Phe, XP_047279479.1:p.Leu740Phe

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