SNP Links for Gene (Select 51184) - SNP

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Select item 14912617721.

rs1491261772 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:110457458 (GRCh38)
12:110895264 (GRCh37)
Canonical SPDI:: NC_000012.12:110457458::C
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00185/22 (ALFA)
HGVS:: NC_000012.12:g.110457458_110457459insC, NC_000012.11:g.110895263_110895264insC

Select item 14912122002.

rs1491212200 has merged into rs56713819 [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,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:110457470 (GRCh38)
12:110895275 (GRCh37)
Canonical SPDI:: NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110457457:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00006/16 (TOPMED)
AAAAAAAAAAAA=0.015411/9 (NorthernSweden)
AAAAAA=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.110457470_110457485del, NC_000012.12:g.110457471_110457485del, NC_000012.12:g.110457472_110457485del, NC_000012.12:g.110457473_110457485del, NC_000012.12:g.110457474_110457485del, NC_000012.12:g.110457475_110457485del, NC_000012.12:g.110457476_110457485del, NC_000012.12:g.110457477_110457485del, NC_000012.12:g.110457478_110457485del, NC_000012.12:g.110457479_110457485del, NC_000012.12:g.110457480_110457485del, NC_000012.12:g.110457481_110457485del, NC_000012.12:g.110457482_110457485del, NC_000012.12:g.110457483_110457485del, NC_000012.12:g.110457484_110457485del, NC_000012.12:g.110457485del, NC_000012.12:g.110457485dup, NC_000012.12:g.110457484_110457485dup, NC_000012.12:g.110457483_110457485dup, NC_000012.12:g.110457482_110457485dup, NC_000012.12:g.110457480_110457485dup, NC_000012.12:g.110457479_110457485dup, NC_000012.12:g.110457478_110457485dup, NC_000012.12:g.110457475_110457485dup, NC_000012.12:g.110457474_110457485dup, NC_000012.11:g.110895275_110895290del, NC_000012.11:g.110895276_110895290del, NC_000012.11:g.110895277_110895290del, NC_000012.11:g.110895278_110895290del, NC_000012.11:g.110895279_110895290del, NC_000012.11:g.110895280_110895290del, NC_000012.11:g.110895281_110895290del, NC_000012.11:g.110895282_110895290del, NC_000012.11:g.110895283_110895290del, NC_000012.11:g.110895284_110895290del, NC_000012.11:g.110895285_110895290del, NC_000012.11:g.110895286_110895290del, NC_000012.11:g.110895287_110895290del, NC_000012.11:g.110895288_110895290del, NC_000012.11:g.110895289_110895290del, NC_000012.11:g.110895290del, NC_000012.11:g.110895290dup, NC_000012.11:g.110895289_110895290dup, NC_000012.11:g.110895288_110895290dup, NC_000012.11:g.110895287_110895290dup, NC_000012.11:g.110895285_110895290dup, NC_000012.11:g.110895284_110895290dup, NC_000012.11:g.110895283_110895290dup, NC_000012.11:g.110895280_110895290dup, NC_000012.11:g.110895279_110895290dup

Select item 14910330273.

rs1491033027 has merged into rs59734369 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:110456337 (GRCh38)
12:110894142 (GRCh37)
Canonical SPDI:: NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110456329:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.110456337_110456350del, NC_000012.12:g.110456341_110456350del, NC_000012.12:g.110456343_110456350del, NC_000012.12:g.110456344_110456350del, NC_000012.12:g.110456347_110456350del, NC_000012.12:g.110456348_110456350del, NC_000012.12:g.110456349_110456350del, NC_000012.12:g.110456350del, NC_000012.12:g.110456350dup, NC_000012.12:g.110456349_110456350dup, NC_000012.12:g.110456348_110456350dup, NC_000012.12:g.110456347_110456350dup, NC_000012.12:g.110456346_110456350dup, NC_000012.12:g.110456345_110456350dup, NC_000012.12:g.110456344_110456350dup, NC_000012.12:g.110456343_110456350dup, NC_000012.12:g.110456339_110456350dup, NC_000012.12:g.110456338_110456350dup, NC_000012.12:g.110456335_110456350dup, NC_000012.11:g.110894142_110894155del, NC_000012.11:g.110894146_110894155del, NC_000012.11:g.110894148_110894155del, NC_000012.11:g.110894149_110894155del, NC_000012.11:g.110894152_110894155del, NC_000012.11:g.110894153_110894155del, NC_000012.11:g.110894154_110894155del, NC_000012.11:g.110894155del, NC_000012.11:g.110894155dup, NC_000012.11:g.110894154_110894155dup, NC_000012.11:g.110894153_110894155dup, NC_000012.11:g.110894152_110894155dup, NC_000012.11:g.110894151_110894155dup, NC_000012.11:g.110894150_110894155dup, NC_000012.11:g.110894149_110894155dup, NC_000012.11:g.110894148_110894155dup, NC_000012.11:g.110894144_110894155dup, NC_000012.11:g.110894143_110894155dup, NC_000012.11:g.110894140_110894155dup

Select item 14908139744.

rs1490813974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110470766 (GRCh38)
12:110908571 (GRCh37)
Canonical SPDI:: NC_000012.12:110470765:C:T
Gene:: FAM216A (Varview), LOC124903016 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.110470766C>T, NC_000012.11:g.110908571C>T, XR_007063459.1:n.436G>A

Select item 14903564205.

rs1490356420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:110467852 (GRCh38)
12:110905657 (GRCh37)
Canonical SPDI:: NC_000012.12:110467851:A:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110467852A>T, NC_000012.11:g.110905657A>T

Select item 14901417356.

rs1490141735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:110460306 (GRCh38)
12:110898111 (GRCh37)
Canonical SPDI:: NC_000012.12:110460305:T:A,NC_000012.12:110460305:T:C
Gene:: GPN3 (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.110460306T>A, NC_000012.12:g.110460306T>C, NC_000012.11:g.110898111T>A, NC_000012.11:g.110898111T>C

Select item 14899831837.

rs1489983183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110455882 (GRCh38)
12:110893687 (GRCh37)
Canonical SPDI:: NC_000012.12:110455881:T:C
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110455882T>C, NC_000012.11:g.110893687T>C, NM_016301.4:c.499A>G, NM_016301.3:c.499A>G, NM_001164372.2:c.616A>G, NM_001164372.1:c.616A>G, NM_001164373.2:c.529A>G, NM_001164373.1:c.529A>G, XM_017019394.2:c.433A>G, XM_017019394.1:c.433A>G, XM_047428933.1:c.736A>G, XM_047428934.1:c.706A>G, NP_057385.3:p.Ile167Val, NP_001157844.1:p.Ile206Val, NP_001157845.1:p.Ile177Val, XP_016874883.1:p.Ile145Val, XP_047284889.1:p.Ile246Val, XP_047284890.1:p.Ile236Val

Select item 14899015548.

rs1489901554 [Homo sapiens]

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

Select item 14896189689.

rs1489618968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110459692 (GRCh38)
12:110897497 (GRCh37)
Canonical SPDI:: NC_000012.12:110459691:C:T
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110459692C>T, NC_000012.11:g.110897497C>T

Select item 148957875910.

rs1489578759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:110468440 (GRCh38)
12:110906245 (GRCh37)
Canonical SPDI:: NC_000012.12:110468439:C:A,NC_000012.12:110468439:C:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110468440C>A, NC_000012.12:g.110468440C>T, NC_000012.11:g.110906245C>A, NC_000012.11:g.110906245C>T, XM_005253875.6:c.-225C>A, XM_005253875.6:c.-225C>T, XM_005253875.5:c.-225C>A, XM_005253875.5:c.-225C>T, XM_005253875.4:c.-225C>A, XM_005253875.4:c.-225C>T, XM_005253875.1:c.-225C>A, XM_005253875.1:c.-225C>T, NM_013300.2:c.-436C>A, NM_013300.2:c.-436C>T, XM_024448959.2:c.-375C>A, XM_024448959.2:c.-375C>T

Select item 148954299311.

rs1489542993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110458610 (GRCh38)
12:110896415 (GRCh37)
Canonical SPDI:: NC_000012.12:110458609:G:A
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.110458610G>A, NC_000012.11:g.110896415G>A

Select item 148949072012.

rs1489490720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110455229 (GRCh38)
12:110893034 (GRCh37)
Canonical SPDI:: NC_000012.12:110455228:T:C
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110455229T>C, NC_000012.11:g.110893034T>C

Select item 148948114913.

rs1489481149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:110465071 (GRCh38)
12:110902876 (GRCh37)
Canonical SPDI:: NC_000012.12:110465070:C:G,NC_000012.12:110465070:C:T
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.110465071C>G, NC_000012.12:g.110465071C>T, NC_000012.11:g.110902876C>G, NC_000012.11:g.110902876C>T

Select item 148944996014.

rs1489449960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:110468846 (GRCh38)
12:110906651 (GRCh37)
Canonical SPDI:: NC_000012.12:110468845:G:A,NC_000012.12:110468845:G:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110468846G>A, NC_000012.12:g.110468846G>T, NC_000012.11:g.110906651G>A, NC_000012.11:g.110906651G>T, NM_013300.3:c.-30G>A, NM_013300.3:c.-30G>T, NM_013300.2:c.-30G>A, NM_013300.2:c.-30G>T

Select item 148941783015.

rs1489417830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:110468261 (GRCh38)
12:110906066 (GRCh37)
Canonical SPDI:: NC_000012.12:110468260:C:A
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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.110468261C>A, NC_000012.11:g.110906066C>A, NM_016301.3:c.-58G>T, XM_047428933.1:c.150G>T, XM_047428934.1:c.150G>T, XM_047428935.1:c.150G>T, XM_047428936.1:c.150G>T, NM_001164373.1:c.-58G>T, XP_047284889.1:p.Glu50Asp, XP_047284890.1:p.Glu50Asp, XP_047284891.1:p.Glu50Asp, XP_047284892.1:p.Glu50Asp

Select item 148939774416.

rs1489397744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:110465693 (GRCh38)
12:110903498 (GRCh37)
Canonical SPDI:: NC_000012.12:110465692:A:C
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110465693A>C, NC_000012.11:g.110903498A>C

Select item 148936450517.

rs1489364505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110469116 (GRCh38)
12:110906921 (GRCh37)
Canonical SPDI:: NC_000012.12:110469115:C:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.110469116C>T, NC_000012.11:g.110906921C>T

Select item 148896418518.

rs1488964185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:110468631 (GRCh38)
12:110906436 (GRCh37)
Canonical SPDI:: NC_000012.12:110468630:G:A,NC_000012.12:110468630:G:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110468631G>A, NC_000012.12:g.110468631G>T, NC_000012.11:g.110906436G>A, NC_000012.11:g.110906436G>T, NM_001164372.2:c.6C>T, NM_001164372.2:c.6C>A, NM_001164372.1:c.6C>T, NM_001164372.1:c.6C>A, NM_013300.2:c.-245G>A, NM_013300.2:c.-245G>T, XM_024448959.2:c.-184G>A, XM_024448959.2:c.-184G>T, XM_024448959.1:c.-184G>A, XM_024448959.1:c.-184G>T, XM_047428933.1:c.-125C>T, XM_047428933.1:c.-125C>A, XM_047428934.1:c.-125C>T, XM_047428934.1:c.-125C>A, XM_047428935.1:c.-125C>T, XM_047428935.1:c.-125C>A, XM_047428936.1:c.-125C>T, XM_047428936.1:c.-125C>A

Select item 148890194519.

rs1488901945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110469464 (GRCh38)
12:110907269 (GRCh37)
Canonical SPDI:: NC_000012.12:110469463:C:T
Gene:: FAM216A (Varview), GPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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.110469464C>T, NC_000012.11:g.110907269C>T

Select item 148847696320.

rs1488476963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110462394 (GRCh38)
12:110900199 (GRCh37)
Canonical SPDI:: NC_000012.12:110462393:A:G
Gene:: GPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.110462394A>G, NC_000012.11:g.110900199A>G

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