SNP Links for Gene (Select 106478970) - SNP

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Select item 14915166161.

rs1491516616 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184099720 (GRCh38)
3:183817508 (GRCh37)
Canonical SPDI:: NC_000003.12:184099719:CA:
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000003.12:g.184099720_184099721del, NC_000003.11:g.183817508_183817509del, NG_012452.1:g.4542_4543del

Select item 14913004532.

rs1491300453 has merged into rs1192532487 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:184099732 (GRCh38)
3:183817520 (GRCh37)
Canonical SPDI:: NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.184099732_184099740del, NC_000003.12:g.184099739_184099740del, NC_000003.12:g.184099740del, NC_000003.12:g.184099740dup, NC_000003.12:g.184099739_184099740dup, NC_000003.12:g.184099738_184099740dup, NC_000003.12:g.184099737_184099740dup, NC_000003.12:g.184099736_184099740dup, NC_000003.12:g.184099735_184099740dup, NC_000003.12:g.184099734_184099740dup, NC_000003.12:g.184099733_184099740dup, NC_000003.12:g.184099732_184099740dup, NC_000003.12:g.184099731_184099740dup, NC_000003.12:g.184099730_184099740dup, NC_000003.12:g.184099729_184099740dup, NC_000003.11:g.183817520_183817528del, NC_000003.11:g.183817527_183817528del, NC_000003.11:g.183817528del, NC_000003.11:g.183817528dup, NC_000003.11:g.183817527_183817528dup, NC_000003.11:g.183817526_183817528dup, NC_000003.11:g.183817525_183817528dup, NC_000003.11:g.183817524_183817528dup, NC_000003.11:g.183817523_183817528dup, NC_000003.11:g.183817522_183817528dup, NC_000003.11:g.183817521_183817528dup, NC_000003.11:g.183817520_183817528dup, NC_000003.11:g.183817519_183817528dup, NC_000003.11:g.183817518_183817528dup, NC_000003.11:g.183817517_183817528dup, NG_012452.1:g.4554_4562del, NG_012452.1:g.4561_4562del, NG_012452.1:g.4562del, NG_012452.1:g.4562dup, NG_012452.1:g.4561_4562dup, NG_012452.1:g.4560_4562dup, NG_012452.1:g.4559_4562dup, NG_012452.1:g.4558_4562dup, NG_012452.1:g.4557_4562dup, NG_012452.1:g.4556_4562dup, NG_012452.1:g.4555_4562dup, NG_012452.1:g.4554_4562dup, NG_012452.1:g.4553_4562dup, NG_012452.1:g.4552_4562dup, NG_012452.1:g.4551_4562dup

Select item 14911451643.

rs1491145164 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184104716 (GRCh38)
3:183822504 (GRCh37)
Canonical SPDI:: NC_000003.12:184104715:CA:
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00021/4 (TOMMO)
HGVS:: NC_000003.12:g.184104716_184104717del, NC_000003.11:g.183822504_183822505del, NG_012452.1:g.9538_9539del

Select item 14910817654.

rs1491081765 has merged into rs35004235 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 3:184096946 (GRCh38)
3:183814734 (GRCh37)
Canonical SPDI:: NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3539/1667 (1000Genomes)
HGVS:: NC_000003.12:g.184096946_184096947del, NC_000003.12:g.184096947del, NC_000003.12:g.184096947dup, NC_000003.12:g.184096946_184096947dup, NC_000003.11:g.183814734_183814735del, NC_000003.11:g.183814735del, NC_000003.11:g.183814735dup, NC_000003.11:g.183814734_183814735dup, NG_012452.1:g.1768_1769del, NG_012452.1:g.1769del, NG_012452.1:g.1769dup, NG_012452.1:g.1768_1769dup

Select item 14901060605.

rs1490106060 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:184100684 (GRCh38)
3:183818472 (GRCh37)
Canonical SPDI:: NC_000003.12:184100683:T:
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.184100684del, NC_000003.11:g.183818472del, NG_012452.1:g.5506del

Select item 14899927316.

rs1489992731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:184099727 (GRCh38)
3:183817515 (GRCh37)
Canonical SPDI:: NC_000003.12:184099726:A:C,NC_000003.12:184099726:A:T
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.184099727A>C, NC_000003.12:g.184099727A>T, NC_000003.11:g.183817515A>C, NC_000003.11:g.183817515A>T, NG_012452.1:g.4549A>C, NG_012452.1:g.4549A>T

Select item 14892398807.

rs1489239880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:184106332 (GRCh38)
3:183824120 (GRCh37)
Canonical SPDI:: NC_000003.12:184106331:C:A
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184106332C>A, NC_000003.11:g.183824120C>A, NG_012452.1:g.11154C>A, NM_198313.3:c.1085C>A, NM_198313.2:c.1085C>A, NM_001256613.2:c.1130C>A, NM_001256613.1:c.1130C>A, NM_182589.2:c.1175C>A, NM_198314.2:c.1130C>A, NM_001256614.1:c.1208C>A, NP_938055.1:p.Thr362Asn, NP_001243542.1:p.Thr377Asn, NP_872395.2:p.Thr392Asn, NP_938056.1:p.Thr377Asn, NP_001243543.1:p.Thr403Asn

Select item 14887947828.

rs1488794782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184102078 (GRCh38)
3:183819866 (GRCh37)
Canonical SPDI:: NC_000003.12:184102077:T:C
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.184102078T>C, NC_000003.11:g.183819866T>C, NG_012452.1:g.6900T>C

Select item 14887440829.

rs1488744082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:184103132 (GRCh38)
3:183820920 (GRCh37)
Canonical SPDI:: NC_000003.12:184103131:G:C
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.184103132G>C, NC_000003.11:g.183820920G>C, NG_012452.1:g.7954G>C

Select item 148871194610.

rs1488711946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 3:184097492 (GRCh38)
3:183815281 (GRCh37)
Canonical SPDI:: NC_000003.12:184097492:CCC:CCCCC
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: CC=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184097494_184097495dup, NC_000003.11:g.183815282_183815283dup, NG_012452.1:g.2316_2317dup, NM_198313.3:c.-36_-35dup, NM_198313.2:c.-36_-35dup, NM_001256613.2:c.-36_-35dup, NM_001256613.1:c.-36_-35dup

Select item 148840221311.

rs1488402213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:184095250 (GRCh38)
3:183813038 (GRCh37)
Canonical SPDI:: NC_000003.12:184095249:T:C,NC_000003.12:184095249:T:G
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.184095250T>C, NC_000003.12:g.184095250T>G, NC_000003.11:g.183813038T>C, NC_000003.11:g.183813038T>G, NG_012452.1:g.72T>C, NG_012452.1:g.72T>G, NR_133658.1:n.383A>G, NR_133658.1:n.383A>C

Select item 148834519812.

rs1488345198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:184096157 (GRCh38)
3:183813945 (GRCh37)
Canonical SPDI:: NC_000003.12:184096156:G:T
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.184096157G>T, NC_000003.11:g.183813945G>T, NG_012452.1:g.979G>T

Select item 148817170513.

rs1488171705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:184099451 (GRCh38)
3:183817239 (GRCh37)
Canonical SPDI:: NC_000003.12:184099450:A:T
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.184099451A>T, NC_000003.11:g.183817239A>T, NG_012452.1:g.4273A>T

Select item 148791224714.

rs1487912247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:184102769 (GRCh38)
3:183820557 (GRCh37)
Canonical SPDI:: NC_000003.12:184102768:C:A
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184102769C>A, NC_000003.11:g.183820557C>A, NG_012452.1:g.7591C>A

Select item 148726253615.

rs1487262536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184106220 (GRCh38)
3:183824008 (GRCh37)
Canonical SPDI:: NC_000003.12:184106219:C:T
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.184106220C>T, NC_000003.11:g.183824008C>T, NG_012452.1:g.11042C>T, NM_198313.3:c.973C>T, NM_198313.2:c.973C>T, NM_001256613.2:c.1018C>T, NM_001256613.1:c.1018C>T, NM_182589.2:c.1063C>T, NM_198314.2:c.1018C>T, NM_001256614.1:c.1096C>T, NP_938055.1:p.Pro325Ser, NP_001243542.1:p.Pro340Ser, NP_872395.2:p.Pro355Ser, NP_938056.1:p.Pro340Ser, NP_001243543.1:p.Pro366Ser

Select item 148694677516.

rs1486946775 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAA [Show Flanks]
Chromosome:: 3:184096779 (GRCh38)
3:183814568 (GRCh37)
Canonical SPDI:: NC_000003.12:184096779:AAAA:AAAATAAAA
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: AAAAT=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184096780_184096783A[4]TAAAA[1], NC_000003.11:g.183814568_183814571A[4]TAAAA[1], NG_012452.1:g.1602_1605A[4]TAAAA[1]

Select item 148679753517.

rs1486797535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184101556 (GRCh38)
3:183819344 (GRCh37)
Canonical SPDI:: NC_000003.12:184101555:T:C
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_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_000003.12:g.184101556T>C, NC_000003.11:g.183819344T>C, NG_012452.1:g.6378T>C

Select item 148674683018.

rs1486746830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:184104149 (GRCh38)
3:183821937 (GRCh37)
Canonical SPDI:: NC_000003.12:184104148:A:C,NC_000003.12:184104148:A:T
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.184104149A>C, NC_000003.12:g.184104149A>T, NC_000003.11:g.183821937A>C, NC_000003.11:g.183821937A>T, NG_012452.1:g.8971A>C, NG_012452.1:g.8971A>T

Select item 148663875019.

rs1486638750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184097432 (GRCh38)
3:183815220 (GRCh37)
Canonical SPDI:: NC_000003.12:184097431:T:C
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.184097432T>C, NC_000003.11:g.183815220T>C, NG_012452.1:g.2254T>C, NM_198313.3:c.-98T>C, NM_198313.2:c.-98T>C, NM_001256613.2:c.-98T>C, NM_001256613.1:c.-98T>C

Select item 148630730920.

rs1486307309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:184096943 (GRCh38)
3:183814731 (GRCh37)
Canonical SPDI:: NC_000003.12:184096942:A:C
Gene:: HTR3E (Varview), HTR3E-AS1 (Varview)
Functional Consequence:: intron_variant,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_000003.12:g.184096943A>C, NC_000003.11:g.183814731A>C, NG_012452.1:g.1765A>C

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