SNP Links for Gene (Select 389761) - SNP

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Items: 1 to 20 of 931

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Select item 14907887071.

rs1490788707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:81930226 (GRCh38)
9:84545141 (GRCh37)
Canonical SPDI:: NC_000009.12:81930225:G:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01531/61 (TOMMO)
T=0.04046/14 (KOREAN)
HGVS:: NC_000009.12:g.81930226G>T, NC_000009.11:g.84545141G>T

Select item 14902938762.

rs1490293876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81933004 (GRCh38)
9:84547919 (GRCh37)
Canonical SPDI:: NC_000009.12:81933003:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.81933004C>T, NC_000009.11:g.84547919C>T, NM_001145197.1:c.*89C>T, NM_207415.1:c.*89C>T

Select item 14902387073.

rs1490238707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:81933861 (GRCh38)
9:84548776 (GRCh37)
Canonical SPDI:: NC_000009.12:81933860:G:A
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000009.12:g.81933861G>A, NC_000009.11:g.84548776G>A, NM_001145197.1:c.*946G>A, NM_207415.1:c.*946G>A

Select item 14895332524.

rs1489533252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81930114 (GRCh38)
9:84545029 (GRCh37)
Canonical SPDI:: NC_000009.12:81930113:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00067/8 (ALFA)
T=0.00012/2 (GnomAD_exomes)
T=0.00141/9 (1000Genomes)
T=0.00173/12 (GnomAD)
HGVS:: NC_000009.12:g.81930114C>T, NC_000009.11:g.84545029C>T, NM_001145197.1:c.247C>T, NM_207415.1:c.247C>T, NP_001138669.1:p.Gln83Ter

Select item 14893999985.

rs1489399998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:81930160 (GRCh38)
9:84545075 (GRCh37)
Canonical SPDI:: NC_000009.12:81930159:G:C
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00006/1 (GnomAD)
HGVS:: NC_000009.12:g.81930160G>C, NC_000009.11:g.84545075G>C, NM_001145197.1:c.293G>C, NM_207415.1:c.293G>C, NP_001138669.1:p.Ser98Thr

Select item 14889444716.

rs1488944471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:81932548 (GRCh38)
9:84547463 (GRCh37)
Canonical SPDI:: NC_000009.12:81932547:C:A
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.81932548C>A, NC_000009.11:g.84547463C>A, NM_001145197.1:c.2387C>A, NM_207415.1:c.2387C>A, NP_001138669.1:p.Ser796Tyr

Select item 14888396977.

rs1488839697 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:81935258 (GRCh38)
9:84550173 (GRCh37)
Canonical SPDI:: NC_000009.12:81935257:T:
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00253/30 (ALFA)
HGVS:: NC_000009.12:g.81935258del, NC_000009.11:g.84550173del

Select item 14887696328.

rs1488769632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81933013 (GRCh38)
9:84547928 (GRCh37)
Canonical SPDI:: NC_000009.12:81933012:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000009.12:g.81933013C>T, NC_000009.11:g.84547928C>T, NM_001145197.1:c.*98C>T, NM_207415.1:c.*98C>T

Select item 14886565989.

rs1488656598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:81932115 (GRCh38)
9:84547030 (GRCh37)
Canonical SPDI:: NC_000009.12:81932114:C:A
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.81932115C>A, NC_000009.11:g.84547030C>A, NM_001145197.1:c.1954C>A, NM_207415.1:c.1954C>A, NP_001138669.1:p.Pro652Thr

Select item 148768004910.

rs1487680049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:81934248 (GRCh38)
9:84549163 (GRCh37)
Canonical SPDI:: NC_000009.12:81934247:C:A,NC_000009.12:81934247:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.81934248C>A, NC_000009.12:g.81934248C>T, NC_000009.11:g.84549163C>A, NC_000009.11:g.84549163C>T, NM_001145197.1:c.*1333C>A, NM_001145197.1:c.*1333C>T, NM_207415.1:c.*1333C>A, NM_207415.1:c.*1333C>T

Select item 148702152511.

rs1487021525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81929949 (GRCh38)
9:84544864 (GRCh37)
Canonical SPDI:: NC_000009.12:81929948:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00029/1 (GnomAD)
HGVS:: NC_000009.12:g.81929949C>T, NC_000009.11:g.84544864C>T

Select item 148655571812.

rs1486555718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:81932575 (GRCh38)
9:84547490 (GRCh37)
Canonical SPDI:: NC_000009.12:81932574:A:G
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.81932575A>G, NC_000009.11:g.84547490A>G, NM_001145197.1:c.2414A>G, NM_207415.1:c.2414A>G, NP_001138669.1:p.His805Arg

Select item 148583021713.

rs1485830217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:81934325 (GRCh38)
9:84549240 (GRCh37)
Canonical SPDI:: NC_000009.12:81934324:C:G
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.81934325C>G, NC_000009.11:g.84549240C>G, NM_001145197.1:c.*1410C>G, NM_207415.1:c.*1410C>G

Select item 148571301514.

rs1485713015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:81933332 (GRCh38)
9:84548247 (GRCh37)
Canonical SPDI:: NC_000009.12:81933331:G:A
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.81933332G>A, NC_000009.11:g.84548247G>A, NM_001145197.1:c.*417G>A, NM_207415.1:c.*417G>A

Select item 148553872515.

rs1485538725 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:81934011 (GRCh38)
9:84548927 (GRCh37)
Canonical SPDI:: NC_000009.12:81934011:GG:GGG
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000045/12 (TOPMED)
HGVS:: NC_000009.12:g.81934013dup, NC_000009.11:g.84548928dup, NM_001145197.1:c.*1098dup, NM_207415.1:c.*1098dup

Select item 148334581716.

rs1483345817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:81932581 (GRCh38)
9:84547496 (GRCh37)
Canonical SPDI:: NC_000009.12:81932580:T:C
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.81932581T>C, NC_000009.11:g.84547496T>C, NM_001145197.1:c.2420T>C, NM_207415.1:c.2420T>C, NP_001138669.1:p.Met807Thr

Select item 148283512517.

rs1482835125 has merged into rs763569360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:81930210 (GRCh38)
9:84545125 (GRCh37)
Canonical SPDI:: NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81930201:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0034/1 (NorthernSweden)
HGVS:: NC_000009.12:g.81930210_81930225del, NC_000009.12:g.81930211_81930225del, NC_000009.12:g.81930212_81930225del, NC_000009.12:g.81930213_81930225del, NC_000009.12:g.81930214_81930225del, NC_000009.12:g.81930215_81930225del, NC_000009.12:g.81930216_81930225del, NC_000009.12:g.81930217_81930225del, NC_000009.12:g.81930218_81930225del, NC_000009.12:g.81930219_81930225del, NC_000009.12:g.81930220_81930225del, NC_000009.12:g.81930221_81930225del, NC_000009.12:g.81930222_81930225del, NC_000009.12:g.81930223_81930225del, NC_000009.12:g.81930224_81930225del, NC_000009.12:g.81930225del, NC_000009.12:g.81930225dup, NC_000009.12:g.81930224_81930225dup, NC_000009.12:g.81930223_81930225dup, NC_000009.12:g.81930222_81930225dup, NC_000009.12:g.81930221_81930225dup, NC_000009.12:g.81930220_81930225dup, NC_000009.11:g.84545125_84545140del, NC_000009.11:g.84545126_84545140del, NC_000009.11:g.84545127_84545140del, NC_000009.11:g.84545128_84545140del, NC_000009.11:g.84545129_84545140del, NC_000009.11:g.84545130_84545140del, NC_000009.11:g.84545131_84545140del, NC_000009.11:g.84545132_84545140del, NC_000009.11:g.84545133_84545140del, NC_000009.11:g.84545134_84545140del, NC_000009.11:g.84545135_84545140del, NC_000009.11:g.84545136_84545140del, NC_000009.11:g.84545137_84545140del, NC_000009.11:g.84545138_84545140del, NC_000009.11:g.84545139_84545140del, NC_000009.11:g.84545140del, NC_000009.11:g.84545140dup, NC_000009.11:g.84545139_84545140dup, NC_000009.11:g.84545138_84545140dup, NC_000009.11:g.84545137_84545140dup, NC_000009.11:g.84545136_84545140dup, NC_000009.11:g.84545135_84545140dup

Select item 148249609018.

rs1482496090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:81934919 (GRCh38)
9:84549834 (GRCh37)
Canonical SPDI:: NC_000009.12:81934918:C:T
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.81934919C>T, NC_000009.11:g.84549834C>T, NM_001145197.1:c.*2004C>T, NM_207415.1:c.*2004C>T

Select item 148217034119.

rs1482170341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:81934534 (GRCh38)
9:84549449 (GRCh37)
Canonical SPDI:: NC_000009.12:81934533:G:C
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.81934534G>C, NC_000009.11:g.84549449G>C, NM_001145197.1:c.*1619G>C, NM_207415.1:c.*1619G>C

Select item 148059481520.

rs1480594815 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 9:81934236 (GRCh38)
9:84549152 (GRCh37)
Canonical SPDI:: NC_000009.12:81934236:AACA:AACAACA
Gene:: SPATA31D4 (Varview), LOC105376108 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAACA=0./0 (ALFA)
AAC=0.000004/1 (TOPMED)
AAC=0.000016/2 (GnomAD)
HGVS:: NC_000009.12:g.81934238_81934240dup, NC_000009.11:g.84549153_84549155dup, NM_001145197.1:c.*1323_*1325dup, NM_207415.1:c.*1323_*1325dup

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