SNP Links for Gene (Select 101928002) - SNP

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Select item 14915552331.

rs1491555233 [Homo sapiens]

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

Select item 14915449542.

rs1491544954 has merged into rs59016188 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:69725996 (GRCh38)
12:70119776 (GRCh37)
Canonical SPDI:: NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:69725985:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000012.12:g.69725996_69726011del, NC_000012.12:g.69725997_69726011del, NC_000012.12:g.69725998_69726011del, NC_000012.12:g.69725999_69726011del, NC_000012.12:g.69726000_69726011del, NC_000012.12:g.69726001_69726011del, NC_000012.12:g.69726002_69726011del, NC_000012.12:g.69726003_69726011del, NC_000012.12:g.69726004_69726011del, NC_000012.12:g.69726005_69726011del, NC_000012.12:g.69726006_69726011del, NC_000012.12:g.69726007_69726011del, NC_000012.12:g.69726008_69726011del, NC_000012.12:g.69726009_69726011del, NC_000012.12:g.69726010_69726011del, NC_000012.12:g.69726011del, NC_000012.12:g.69726011dup, NC_000012.12:g.69726010_69726011dup, NC_000012.12:g.69726009_69726011dup, NC_000012.12:g.69726008_69726011dup, NC_000012.12:g.69726007_69726011dup, NC_000012.12:g.69726006_69726011dup, NC_000012.12:g.69726005_69726011dup, NC_000012.12:g.69726004_69726011dup, NC_000012.12:g.69726003_69726011dup, NC_000012.12:g.69726002_69726011dup, NC_000012.12:g.69726001_69726011dup, NC_000012.12:g.69726000_69726011dup, NC_000012.12:g.69725999_69726011dup, NC_000012.12:g.69725998_69726011dup, NC_000012.12:g.69725997_69726011dup, NC_000012.12:g.69725986_69726011dup, NC_000012.11:g.70119776_70119791del, NC_000012.11:g.70119777_70119791del, NC_000012.11:g.70119778_70119791del, NC_000012.11:g.70119779_70119791del, NC_000012.11:g.70119780_70119791del, NC_000012.11:g.70119781_70119791del, NC_000012.11:g.70119782_70119791del, NC_000012.11:g.70119783_70119791del, NC_000012.11:g.70119784_70119791del, NC_000012.11:g.70119785_70119791del, NC_000012.11:g.70119786_70119791del, NC_000012.11:g.70119787_70119791del, NC_000012.11:g.70119788_70119791del, NC_000012.11:g.70119789_70119791del, NC_000012.11:g.70119790_70119791del, NC_000012.11:g.70119791del, NC_000012.11:g.70119791dup, NC_000012.11:g.70119790_70119791dup, NC_000012.11:g.70119789_70119791dup, NC_000012.11:g.70119788_70119791dup, NC_000012.11:g.70119787_70119791dup, NC_000012.11:g.70119786_70119791dup, NC_000012.11:g.70119785_70119791dup, NC_000012.11:g.70119784_70119791dup, NC_000012.11:g.70119783_70119791dup, NC_000012.11:g.70119782_70119791dup, NC_000012.11:g.70119781_70119791dup, NC_000012.11:g.70119780_70119791dup, NC_000012.11:g.70119779_70119791dup, NC_000012.11:g.70119778_70119791dup, NC_000012.11:g.70119777_70119791dup, NC_000012.11:g.70119766_70119791dup

Select item 14907399683.

rs1490739968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:69736206 (GRCh38)
12:70129986 (GRCh37)
Canonical SPDI:: NC_000012.12:69736205:T:A,NC_000012.12:69736205:T:C
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.69736206T>A, NC_000012.12:g.69736206T>C, NC_000012.11:g.70129986T>A, NC_000012.11:g.70129986T>C

Select item 14907226304.

rs1490722630 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAGT>- [Show Flanks]
Chromosome:: 12:69719356 (GRCh38)
12:70113136 (GRCh37)
Canonical SPDI:: NC_000012.12:69719350:GGAGTTGGAGT:GGAGT
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69719356_69719361del, NC_000012.11:g.70113136_70113141del

Select item 14905751535.

rs1490575153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69735859 (GRCh38)
12:70129639 (GRCh37)
Canonical SPDI:: NC_000012.12:69735858:T:C
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_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_000012.12:g.69735859T>C, NC_000012.11:g.70129639T>C

Select item 14905093136.

rs1490509313 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:69728355 (GRCh38)
12:70122135 (GRCh37)
Canonical SPDI:: NC_000012.12:69728354:A:
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.69728355del, NC_000012.11:g.70122135del

Select item 14903769027.

rs1490376902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:69727140 (GRCh38)
12:70120920 (GRCh37)
Canonical SPDI:: NC_000012.12:69727139:A:C
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.69727140A>C, NC_000012.11:g.70120920A>C

Select item 14903511398.

rs1490351139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:69725958 (GRCh38)
12:70119738 (GRCh37)
Canonical SPDI:: NC_000012.12:69725957:C:A,NC_000012.12:69725957:C:T
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.69725958C>A, NC_000012.12:g.69725958C>T, NC_000012.11:g.70119738C>A, NC_000012.11:g.70119738C>T

Select item 14902213679.

rs1490221367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:69726555 (GRCh38)
12:70120335 (GRCh37)
Canonical SPDI:: NC_000012.12:69726554:A:C,NC_000012.12:69726554:A:G
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.69726555A>C, NC_000012.12:g.69726555A>G, NC_000012.11:g.70120335A>C, NC_000012.11:g.70120335A>G

Select item 149019512510.

rs1490195125 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:69725347 (GRCh38)
12:70119127 (GRCh37)
Canonical SPDI:: NC_000012.12:69725346:TT:
Gene:: LOC101928002 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.69725347_69725348del, NC_000012.11:g.70119127_70119128del, NR_110072.2:n.439_440del, NR_110072.1:n.457_458del, NR_159972.1:n.315_316del, NR_159971.1:n.315_316del

Select item 149012298511.

rs1490122985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69717729 (GRCh38)
12:70111509 (GRCh37)
Canonical SPDI:: NC_000012.12:69717728:G:A
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.69717729G>A, NC_000012.11:g.70111509G>A

Select item 148999090012.

rs1489990900 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:69716137 (GRCh38)
12:70109918 (GRCh37)
Canonical SPDI:: NC_000012.12:69716137::A
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000018/2 (GnomAD)
HGVS:: NC_000012.12:g.69716137_69716138insA, NC_000012.11:g.70109917_70109918insA

Select item 148995359813.

rs1489953598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69734191 (GRCh38)
12:70127971 (GRCh37)
Canonical SPDI:: NC_000012.12:69734190:C:T
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_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_000012.12:g.69734191C>T, NC_000012.11:g.70127971C>T

Select item 148972232414.

rs1489722324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69735246 (GRCh38)
12:70129026 (GRCh37)
Canonical SPDI:: NC_000012.12:69735245:T:C
Gene:: LOC101928002 (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_000012.12:g.69735246T>C, NC_000012.11:g.70129026T>C

Select item 148943747815.

rs1489437478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:69738279 (GRCh38)
12:70132059 (GRCh37)
Canonical SPDI:: NC_000012.12:69738278:T:A
Gene:: RAB3IP (Varview), LOC101928002 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69738279T>A, NC_000012.11:g.70132059T>A, XM_006719226.4:c.-72T>A, XM_006719226.3:c.-72T>A, NR_110072.2:n.272A>T, NR_110072.1:n.290A>T, XM_017018775.2:c.-72T>A, NR_159972.1:n.272A>T, XR_007063038.1:n.19T>A, XM_047428266.1:c.-72T>A, XM_047428268.1:c.-72T>A, XM_047428267.1:c.-72T>A, XR_007063039.1:n.19T>A, NR_159971.1:n.272A>T

Select item 148940016916.

rs1489400169 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:69734729 (GRCh38)
12:70128509 (GRCh37)
Canonical SPDI:: NC_000012.12:69734728:A:
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.69734729del, NC_000012.11:g.70128509del

Select item 148924015717.

rs1489240157 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:69735674 (GRCh38)
12:70129455 (GRCh37)
Canonical SPDI:: NC_000012.12:69735674:AAAAA:AAAAAA
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69735679dup, NC_000012.11:g.70129459dup

Select item 148923046118.

rs1489230461 has merged into rs1194472953 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:69735096 (GRCh38)
12:70128876 (GRCh37)
Canonical SPDI:: NC_000012.12:69735095:GGGGGG:GGGGG,NC_000012.12:69735095:GGGGGG:GGGGGGG
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000012.12:g.69735101del, NC_000012.12:g.69735101dup, NC_000012.11:g.70128881del, NC_000012.11:g.70128881dup

Select item 148898524419.

rs1488985244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:69723572 (GRCh38)
12:70117352 (GRCh37)
Canonical SPDI:: NC_000012.12:69723571:C:A
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_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_000012.12:g.69723572C>A, NC_000012.11:g.70117352C>A

Select item 148896430420.

rs1488964304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69724723 (GRCh38)
12:70118503 (GRCh37)
Canonical SPDI:: NC_000012.12:69724722:G:A
Gene:: LOC101928002 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69724723G>A, NC_000012.11:g.70118503G>A

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