SNP Links for Gene (Select 1370) - SNP

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Select item 14915012431.

rs1491501243 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:194347199 (GRCh38)
3:194067929 (GRCh37)
Canonical SPDI:: NC_000003.12:194347199::A
Gene:: CPN2 (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.194347199_194347200insA, NC_000003.11:g.194067928_194067929insA

Select item 14914579142.

rs1491457914 [Homo sapiens]

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

Select item 14912593083.

rs1491259308 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGTA [Show Flanks]
Chromosome:: 3:194352804 (GRCh38)
3:194073534 (GRCh37)
Canonical SPDI:: NC_000003.12:194352804::GTGTA
Gene:: CPN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GTGTA=0./0 (ALFA)
HGVS:: NC_000003.12:g.194352804_194352805insGTGTA, NC_000003.11:g.194073533_194073534insGTGTA

Select item 14911484264.

rs1491148426 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:194345232 (GRCh38)
3:194065962 (GRCh37)
Canonical SPDI:: NC_000003.12:194345232::A
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.302719/4944 (ALFA)
A=0.144651/265 (Korea1K)
A=0.225034/3772 (TOMMO)
A=0.236621/1185 (1000Genomes)
A=0.25/10 (GENOME_DK)
A=0.27945/1077 (ALSPAC)
A=0.290453/1077 (TWINSUK)
A=0.292187/1309 (Estonian)
A=0.310426/43451 (GnomAD)
A=0.383333/230 (NorthernSweden)
HGVS:: NC_000003.12:g.194345232_194345233insA, NC_000003.11:g.194065961_194065962insA

Select item 14911293635.

rs1491129363 [Homo sapiens]

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

Select item 14911158066.

rs1491115806 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:194352811 (GRCh38)
3:194073540 (GRCh37)
Canonical SPDI:: NC_000003.12:194352803:GTGTGTGTG:GTGTGTG
Gene:: CPN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTG=0./0 (ALFA)
-=0.000051/7 (GnomAD)
-=0.000291/5 (TOMMO)
HGVS:: NC_000003.12:g.194352805TG[3], NC_000003.11:g.194073534TG[3]

Select item 14910487607.

rs1491048760 has merged into rs944078070 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 3:194352873 (GRCh38)
3:194073602 (GRCh37)
Canonical SPDI:: NC_000003.12:194352862:TGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:194352862:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: CPN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000072/7 (GnomAD)
-=0.001638/3 (Korea1K)
HGVS:: NC_000003.12:g.194352863TG[5], NC_000003.12:g.194352863TG[7], NC_000003.11:g.194073592TG[5], NC_000003.11:g.194073592TG[7]

Select item 14908373178.

rs1490837317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194347584 (GRCh38)
3:194068313 (GRCh37)
Canonical SPDI:: NC_000003.12:194347583:G:A
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.194347584G>A, NC_000003.11:g.194068313G>A

Select item 14905429459.

rs1490542945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194345715 (GRCh38)
3:194066444 (GRCh37)
Canonical SPDI:: NC_000003.12:194345714:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194345715C>T, NC_000003.11:g.194066444C>T

Select item 149009551510.

rs1490095515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194349356 (GRCh38)
3:194070085 (GRCh37)
Canonical SPDI:: NC_000003.12:194349355:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194349356C>T, NC_000003.11:g.194070085C>T

Select item 149007642211.

rs1490076422 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 3:194346658 (GRCh38)
3:194067388 (GRCh37)
Canonical SPDI:: NC_000003.12:194346658:CACAC:CACACAC
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACAC=0./0 (ALFA)
CA=0.000007/1 (GnomAD)
CA=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.194346660AC[3], NC_000003.11:g.194067389AC[3]

Select item 149006965612.

rs1490069656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194348429 (GRCh38)
3:194069158 (GRCh37)
Canonical SPDI:: NC_000003.12:194348428:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194348429C>T, NC_000003.11:g.194069158C>T

Select item 149003042413.

rs1490030424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194348498 (GRCh38)
3:194069227 (GRCh37)
Canonical SPDI:: NC_000003.12:194348497:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.194348498C>T, NC_000003.11:g.194069227C>T

Select item 148990721114.

rs1489907211 has merged into rs959512321 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:194348890 (GRCh38)
3:194069619 (GRCh37)
Canonical SPDI:: NC_000003.12:194348889:AAAAAAA:AAAAAA,NC_000003.12:194348889:AAAAAAA:AAAAAAAA
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.194348896del, NC_000003.12:g.194348896dup, NC_000003.11:g.194069625del, NC_000003.11:g.194069625dup

Select item 148979085715.

rs1489790857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194348785 (GRCh38)
3:194069514 (GRCh37)
Canonical SPDI:: NC_000003.12:194348784:G:A
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.194348785G>A, NC_000003.11:g.194069514G>A

Select item 148966239716.

rs1489662397 has merged into rs757478492 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:194349790 (GRCh38)
3:194070519 (GRCh37)
Canonical SPDI:: NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194349778:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000003.12:g.194349790_194349818del, NC_000003.12:g.194349791_194349818del, NC_000003.12:g.194349792_194349818del, NC_000003.12:g.194349793_194349818del, NC_000003.12:g.194349794_194349818del, NC_000003.12:g.194349795_194349818del, NC_000003.12:g.194349796_194349818del, NC_000003.12:g.194349797_194349818del, NC_000003.12:g.194349798_194349818del, NC_000003.12:g.194349799_194349818del, NC_000003.12:g.194349800_194349818del, NC_000003.12:g.194349801_194349818del, NC_000003.12:g.194349802_194349818del, NC_000003.12:g.194349803_194349818del, NC_000003.12:g.194349804_194349818del, NC_000003.12:g.194349805_194349818del, NC_000003.12:g.194349806_194349818del, NC_000003.12:g.194349807_194349818del, NC_000003.12:g.194349808_194349818del, NC_000003.12:g.194349809_194349818del, NC_000003.12:g.194349810_194349818del, NC_000003.12:g.194349811_194349818del, NC_000003.12:g.194349812_194349818del, NC_000003.12:g.194349813_194349818del, NC_000003.12:g.194349814_194349818del, NC_000003.12:g.194349815_194349818del, NC_000003.12:g.194349816_194349818del, NC_000003.12:g.194349817_194349818del, NC_000003.12:g.194349818del, NC_000003.12:g.194349818dup, NC_000003.12:g.194349817_194349818dup, NC_000003.12:g.194349816_194349818dup, NC_000003.12:g.194349815_194349818dup, NC_000003.12:g.194349814_194349818dup, NC_000003.12:g.194349813_194349818dup, NC_000003.12:g.194349812_194349818dup, NC_000003.12:g.194349811_194349818dup, NC_000003.12:g.194349810_194349818dup, NC_000003.12:g.194349809_194349818dup, NC_000003.12:g.194349808_194349818dup, NC_000003.12:g.194349807_194349818dup, NC_000003.12:g.194349806_194349818dup, NC_000003.12:g.194349805_194349818dup, NC_000003.12:g.194349803_194349818dup, NC_000003.12:g.194349801_194349818dup, NC_000003.12:g.194349800_194349818dup, NC_000003.12:g.194349799_194349818dup, NC_000003.12:g.194349783_194349818dup, NC_000003.11:g.194070519_194070547del, NC_000003.11:g.194070520_194070547del, NC_000003.11:g.194070521_194070547del, NC_000003.11:g.194070522_194070547del, NC_000003.11:g.194070523_194070547del, NC_000003.11:g.194070524_194070547del, NC_000003.11:g.194070525_194070547del, NC_000003.11:g.194070526_194070547del, NC_000003.11:g.194070527_194070547del, NC_000003.11:g.194070528_194070547del, NC_000003.11:g.194070529_194070547del, NC_000003.11:g.194070530_194070547del, NC_000003.11:g.194070531_194070547del, NC_000003.11:g.194070532_194070547del, NC_000003.11:g.194070533_194070547del, NC_000003.11:g.194070534_194070547del, NC_000003.11:g.194070535_194070547del, NC_000003.11:g.194070536_194070547del, NC_000003.11:g.194070537_194070547del, NC_000003.11:g.194070538_194070547del, NC_000003.11:g.194070539_194070547del, NC_000003.11:g.194070540_194070547del, NC_000003.11:g.194070541_194070547del, NC_000003.11:g.194070542_194070547del, NC_000003.11:g.194070543_194070547del, NC_000003.11:g.194070544_194070547del, NC_000003.11:g.194070545_194070547del, NC_000003.11:g.194070546_194070547del, NC_000003.11:g.194070547del, NC_000003.11:g.194070547dup, NC_000003.11:g.194070546_194070547dup, NC_000003.11:g.194070545_194070547dup, NC_000003.11:g.194070544_194070547dup, NC_000003.11:g.194070543_194070547dup, NC_000003.11:g.194070542_194070547dup, NC_000003.11:g.194070541_194070547dup, NC_000003.11:g.194070540_194070547dup, NC_000003.11:g.194070539_194070547dup, NC_000003.11:g.194070538_194070547dup, NC_000003.11:g.194070537_194070547dup, NC_000003.11:g.194070536_194070547dup, NC_000003.11:g.194070535_194070547dup, NC_000003.11:g.194070534_194070547dup, NC_000003.11:g.194070532_194070547dup, NC_000003.11:g.194070530_194070547dup, NC_000003.11:g.194070529_194070547dup, NC_000003.11:g.194070528_194070547dup, NC_000003.11:g.194070512_194070547dup

Select item 148961148017.

rs1489611480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194349034 (GRCh38)
3:194069763 (GRCh37)
Canonical SPDI:: NC_000003.12:194349033:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194349034C>T, NC_000003.11:g.194069763C>T

Select item 148877558618.

rs1488775586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:194343251 (GRCh38)
3:194063980 (GRCh37)
Canonical SPDI:: NC_000003.12:194343250:G:A,NC_000003.12:194343250:G:C
Gene:: CPN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.194343251G>A, NC_000003.12:g.194343251G>C, NC_000003.11:g.194063980G>A, NC_000003.11:g.194063980G>C

Select item 148865679019.

rs1488656790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194342406 (GRCh38)
3:194063135 (GRCh37)
Canonical SPDI:: NC_000003.12:194342405:C:T
Gene:: CPN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.194342406C>T, NC_000003.11:g.194063135C>T, XM_005269280.5:c.297G>A, XM_005269280.4:c.297G>A, XM_005269280.3:c.297G>A, XM_005269280.2:c.297G>A, XM_005269280.1:c.297G>A, NM_001080513.4:c.297G>A, NM_001080513.3:c.297G>A, NM_001080513.2:c.297G>A, NM_001291988.2:c.297G>A, NM_001291988.1:c.297G>A, NM_001309.1:c.297G>A

Select item 148857019320.

rs1488570193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194340143 (GRCh38)
3:194060872 (GRCh37)
Canonical SPDI:: NC_000003.12:194340142:G:A
Gene:: CPN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194340143G>A, NC_000003.11:g.194060872G>A, XM_005269280.5:c.*922C>T, XM_005269280.4:c.*922C>T, XM_005269280.3:c.*922C>T, NM_001080513.4:c.*922C>T, NM_001080513.3:c.*922C>T, NM_001080513.2:c.*922C>T, NM_001291988.2:c.*922C>T, NM_001291988.1:c.*922C>T, NM_001309.1:c.*922C>T

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