SNP Links for Gene (Select 7062) - SNP

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Select item 14915563441.

rs1491556344 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14912050902.

rs1491205090 has merged into rs58424032 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:152106146 (GRCh38)
1:152078622 (GRCh37)
Canonical SPDI:: NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:152106133:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TCHH (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.152106146_152106163del, NC_000001.11:g.152106147_152106163del, NC_000001.11:g.152106149_152106163del, NC_000001.11:g.152106150_152106163del, NC_000001.11:g.152106151_152106163del, NC_000001.11:g.152106152_152106163del, NC_000001.11:g.152106153_152106163del, NC_000001.11:g.152106154_152106163del, NC_000001.11:g.152106155_152106163del, NC_000001.11:g.152106156_152106163del, NC_000001.11:g.152106157_152106163del, NC_000001.11:g.152106158_152106163del, NC_000001.11:g.152106159_152106163del, NC_000001.11:g.152106160_152106163del, NC_000001.11:g.152106161_152106163del, NC_000001.11:g.152106162_152106163del, NC_000001.11:g.152106163del, NC_000001.11:g.152106163dup, NC_000001.11:g.152106162_152106163dup, NC_000001.11:g.152106161_152106163dup, NC_000001.11:g.152106160_152106163dup, NC_000001.11:g.152106159_152106163dup, NC_000001.11:g.152106158_152106163dup, NC_000001.11:g.152106157_152106163dup, NC_000001.11:g.152106156_152106163dup, NC_000001.11:g.152106155_152106163dup, NC_000001.11:g.152106149_152106163dup, NC_000001.10:g.152078622_152078639del, NC_000001.10:g.152078623_152078639del, NC_000001.10:g.152078625_152078639del, NC_000001.10:g.152078626_152078639del, NC_000001.10:g.152078627_152078639del, NC_000001.10:g.152078628_152078639del, NC_000001.10:g.152078629_152078639del, NC_000001.10:g.152078630_152078639del, NC_000001.10:g.152078631_152078639del, NC_000001.10:g.152078632_152078639del, NC_000001.10:g.152078633_152078639del, NC_000001.10:g.152078634_152078639del, NC_000001.10:g.152078635_152078639del, NC_000001.10:g.152078636_152078639del, NC_000001.10:g.152078637_152078639del, NC_000001.10:g.152078638_152078639del, NC_000001.10:g.152078639del, NC_000001.10:g.152078639dup, NC_000001.10:g.152078638_152078639dup, NC_000001.10:g.152078637_152078639dup, NC_000001.10:g.152078636_152078639dup, NC_000001.10:g.152078635_152078639dup, NC_000001.10:g.152078634_152078639dup, NC_000001.10:g.152078633_152078639dup, NC_000001.10:g.152078632_152078639dup, NC_000001.10:g.152078631_152078639dup, NC_000001.10:g.152078625_152078639dup, NG_052960.1:g.14304_14321del, NG_052960.1:g.14305_14321del, NG_052960.1:g.14307_14321del, NG_052960.1:g.14308_14321del, NG_052960.1:g.14309_14321del, NG_052960.1:g.14310_14321del, NG_052960.1:g.14311_14321del, NG_052960.1:g.14312_14321del, NG_052960.1:g.14313_14321del, NG_052960.1:g.14314_14321del, NG_052960.1:g.14315_14321del, NG_052960.1:g.14316_14321del, NG_052960.1:g.14317_14321del, NG_052960.1:g.14318_14321del, NG_052960.1:g.14319_14321del, NG_052960.1:g.14320_14321del, NG_052960.1:g.14321del, NG_052960.1:g.14321dup, NG_052960.1:g.14320_14321dup, NG_052960.1:g.14319_14321dup, NG_052960.1:g.14318_14321dup, NG_052960.1:g.14317_14321dup, NG_052960.1:g.14316_14321dup, NG_052960.1:g.14315_14321dup, NG_052960.1:g.14314_14321dup, NG_052960.1:g.14313_14321dup, NG_052960.1:g.14307_14321dup

Select item 14905328213.

rs1490532821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152111719 (GRCh38)
1:152084195 (GRCh37)
Canonical SPDI:: NC_000001.11:152111718:G:C
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
C=0.000602/17 (TOMMO)
HGVS:: NC_000001.11:g.152111719G>C, NC_000001.10:g.152084195G>C, NG_052960.1:g.8736C>G, NM_007113.4:c.1498C>G, NM_007113.3:c.1498C>G, NP_009044.2:p.Gln500Glu

Select item 14902753724.

rs1490275372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:152106275 (GRCh38)
1:152078751 (GRCh37)
Canonical SPDI:: NC_000001.11:152106274:A:C
Gene:: TCHH (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152106275A>C, NC_000001.10:g.152078751A>C, NG_052960.1:g.14180T>G

Select item 14901905735.

rs1490190573 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:152107724 (GRCh38)
1:152080200 (GRCh37)
Canonical SPDI:: NC_000001.11:152107721:TCCTC:TC
Gene:: TCHH (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152107724_152107726del, NC_000001.10:g.152080200_152080202del, NG_052960.1:g.12731_12733del, NM_007113.4:c.5493_5495del, NM_007113.3:c.5493_5495del, NP_009044.2:p.Glu1832del

Select item 14901232516.

rs1490123251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152107871 (GRCh38)
1:152080347 (GRCh37)
Canonical SPDI:: NC_000001.11:152107870:C:T
Gene:: TCHH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00018/3 (TOMMO)
HGVS:: NC_000001.11:g.152107871C>T, NC_000001.10:g.152080347C>T, NG_052960.1:g.12584G>A, NM_007113.4:c.5346G>A, NM_007113.3:c.5346G>A

Select item 14900859867.

rs1490085986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152107403 (GRCh38)
1:152079879 (GRCh37)
Canonical SPDI:: NC_000001.11:152107402:T:C
Gene:: TCHH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.152107403T>C, NC_000001.10:g.152079879T>C, NG_052960.1:g.13052A>G, NM_007113.4:c.5814A>G, NM_007113.3:c.5814A>G

Select item 14899215928.

rs1489921592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152106895 (GRCh38)
1:152079371 (GRCh37)
Canonical SPDI:: NC_000001.11:152106894:T:C
Gene:: TCHH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152106895T>C, NC_000001.10:g.152079371T>C, NG_052960.1:g.13560A>G, NM_007113.4:c.*490A>G, NM_007113.3:c.*490A>G

Select item 14891186389.

rs1489118638 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:152105920 (GRCh38)
1:152078396 (GRCh37)
Canonical SPDI:: NC_000001.11:152105919:C:
Gene:: TCHH (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152105920del, NC_000001.10:g.152078396del, NG_052960.1:g.14535del

Select item 148896697210.

rs1488966972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:152107789 (GRCh38)
1:152080265 (GRCh37)
Canonical SPDI:: NC_000001.11:152107788:G:A,NC_000001.11:152107788:G:C
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.152107789G>A, NC_000001.11:g.152107789G>C, NC_000001.10:g.152080265G>A, NC_000001.10:g.152080265G>C, NG_052960.1:g.12666C>T, NG_052960.1:g.12666C>G, NM_007113.4:c.5428C>T, NM_007113.4:c.5428C>G, NM_007113.3:c.5428C>T, NM_007113.3:c.5428C>G, NP_009044.2:p.Gln1810Ter, NP_009044.2:p.Gln1810Glu

Select item 148877104211.

rs1488771042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:152109482 (GRCh38)
1:152081958 (GRCh37)
Canonical SPDI:: NC_000001.11:152109481:T:C
Gene:: TCHH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.152109482T>C, NC_000001.10:g.152081958T>C, NG_052960.1:g.10973A>G, NM_007113.4:c.3735A>G, NM_007113.3:c.3735A>G

Select item 148865929212.

rs1488659292 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:152106745 (GRCh38)
1:152079221 (GRCh37)
Canonical SPDI:: NC_000001.11:152106744:AAA:AA
Gene:: TCHH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152106747del, NC_000001.10:g.152079223del, NG_052960.1:g.13710del, NM_007113.4:c.*640del, NM_007113.3:c.*640del

Select item 148855945113.

rs1488559451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:152114216 (GRCh38)
1:152086692 (GRCh37)
Canonical SPDI:: NC_000001.11:152114215:C:A
Gene:: TCHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152114216C>A, NC_000001.10:g.152086692C>A, NG_052960.1:g.6239G>T

Select item 148826876814.

rs1488268768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:152108622 (GRCh38)
1:152081098 (GRCh37)
Canonical SPDI:: NC_000001.11:152108621:T:A
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152108622T>A, NC_000001.10:g.152081098T>A, NG_052960.1:g.11833A>T, NM_007113.4:c.4595A>T, NM_007113.3:c.4595A>T, NP_009044.2:p.Lys1532Ile

Select item 148811731715.

rs1488117317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152116674 (GRCh38)
1:152089150 (GRCh37)
Canonical SPDI:: NC_000001.11:152116673:G:A
Gene:: TCHH (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152116674G>A, NC_000001.10:g.152089150G>A, NG_052960.1:g.3781C>T

Select item 148791432216.

rs1487914322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:152116744 (GRCh38)
1:152089220 (GRCh37)
Canonical SPDI:: NC_000001.11:152116743:G:A,NC_000001.11:152116743:G:T
Gene:: TCHH (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.152116744G>A, NC_000001.11:g.152116744G>T, NC_000001.10:g.152089220G>A, NC_000001.10:g.152089220G>T, NG_052960.1:g.3711C>T, NG_052960.1:g.3711C>A

Select item 148754041417.

rs1487540414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:152111625 (GRCh38)
1:152084101 (GRCh37)
Canonical SPDI:: NC_000001.11:152111624:C:A,NC_000001.11:152111624:C:T
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
T=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.152111625C>A, NC_000001.11:g.152111625C>T, NC_000001.10:g.152084101C>A, NC_000001.10:g.152084101C>T, NG_052960.1:g.8830G>T, NG_052960.1:g.8830G>A, NM_007113.4:c.1592G>T, NM_007113.4:c.1592G>A, NM_007113.3:c.1592G>T, NM_007113.3:c.1592G>A, NP_009044.2:p.Arg531Leu, NP_009044.2:p.Arg531Gln

Select item 148751654118.

rs1487516541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152114420 (GRCh38)
1:152086896 (GRCh37)
Canonical SPDI:: NC_000001.11:152114419:A:G
Gene:: TCHH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152114420A>G, NC_000001.10:g.152086896A>G, NG_052960.1:g.6035T>C

Select item 148738715119.

rs1487387151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152109862 (GRCh38)
1:152082338 (GRCh37)
Canonical SPDI:: NC_000001.11:152109861:C:T
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.152109862C>T, NC_000001.10:g.152082338C>T, NG_052960.1:g.10593G>A, NM_007113.4:c.3355G>A, NM_007113.3:c.3355G>A, NP_009044.2:p.Glu1119Lys

Select item 148737860020.

rs1487378600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152112477 (GRCh38)
1:152084953 (GRCh37)
Canonical SPDI:: NC_000001.11:152112476:C:T
Gene:: TCHH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152112477C>T, NC_000001.10:g.152084953C>T, NG_052960.1:g.7978G>A, NM_007113.4:c.740G>A, NM_007113.3:c.740G>A, NP_009044.2:p.Arg247Lys

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