SNP Links for Gene (Select 54020) - SNP

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Select item 14915319291.

rs1491531929 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA,ACACA,ACACACA,ACACACACA,ACACACACACA,ACACACACACACA,ACACACACACACACA,ACACACACACACACACA,ACACACACACACACACACA,ACACACACACACACACACACA,ACACACACACACACACACACACA,ACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 21:42530655 (GRCh38)
21:43950766 (GRCh37)
Canonical SPDI:: NC_000021.9:42530655::A,NC_000021.9:42530655::ACA,NC_000021.9:42530655::ACACA,NC_000021.9:42530655::ACACACA,NC_000021.9:42530655::ACACACACA,NC_000021.9:42530655::ACACACACACA,NC_000021.9:42530655::ACACACACACACA,NC_000021.9:42530655::ACACACACACACACA,NC_000021.9:42530655::ACACACACACACACACA,NC_000021.9:42530655::ACACACACACACACACACA,NC_000021.9:42530655::ACACACACACACACACACACA,NC_000021.9:42530655::ACACACACACACACACACACACA,NC_000021.9:42530655::ACACACACACACACACACACACACACACA
Gene:: SLC37A1 (Varview), LOC107987299 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000021.9:g.42530655_42530656insA, NC_000021.9:g.42530655_42530656insACA, NC_000021.9:g.42530655_42530656insACACA, NC_000021.9:g.42530655_42530656insACACACA, NC_000021.9:g.42530655_42530656insACACACACA, NC_000021.9:g.42530655_42530656insACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACACACACACA, NC_000021.9:g.42530655_42530656insACACACACACACACACACACACACACACA, NC_000021.8:g.43950765_43950766insA, NC_000021.8:g.43950765_43950766insACA, NC_000021.8:g.43950765_43950766insACACA, NC_000021.8:g.43950765_43950766insACACACA, NC_000021.8:g.43950765_43950766insACACACACA, NC_000021.8:g.43950765_43950766insACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACACACACACA, NC_000021.8:g.43950765_43950766insACACACACACACACACACACACACACACA, NG_033931.1:g.36024_36025insA, NG_033931.1:g.36024_36025insACA, NG_033931.1:g.36024_36025insACACA, NG_033931.1:g.36024_36025insACACACA, NG_033931.1:g.36024_36025insACACACACA, NG_033931.1:g.36024_36025insACACACACACA, NG_033931.1:g.36024_36025insACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACACACACACA, NG_033931.1:g.36024_36025insACACACACACACACACACACACACACACA

Select item 14915261512.

rs1491526151 [Homo sapiens]

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

Select item 14914689973.

rs1491468997 has merged into rs397797561 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 21:42572693 (GRCh38)
21:43992803 (GRCh37)
Canonical SPDI:: NC_000021.9:42572690:AGAG:AG
Gene:: SLC37A1 (Varview), LOC101928212 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.004232/69 (ALFA)
-=0.000465/123 (TOPMED)
-=0.000953/128 (GnomAD)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000021.9:g.42572691AG[1], NC_000021.8:g.43992801AG[1], NG_033931.1:g.78060AG[1]

Select item 14914335044.

rs1491433504 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAT [Show Flanks]
Chromosome:: 21:42572691 (GRCh38)
21:43992802 (GRCh37)
Canonical SPDI:: NC_000021.9:42572691::AAAAAAAAAT
Gene:: SLC37A1 (Varview), LOC101928212 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAT=0.000084/1 (ALFA)
AAAAAAAAAT=0.000009/1 (GnomAD)
HGVS:: NC_000021.9:g.42572691_42572692insAAAAAAAAAT, NC_000021.8:g.43992801_43992802insAAAAAAAAAT, NG_033931.1:g.78060_78061insAAAAAAAAAT

Select item 14913215285.

rs1491321528 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGGCC [Show Flanks]
Chromosome:: 21:42570189 (GRCh38)
21:43990300 (GRCh37)
Canonical SPDI:: NC_000021.9:42570189::CGGCC
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CGGCC=0.00007/6 (GnomAD)
CGGCC=0.00039/7 (TOMMO)
CGGCC=0.0011/2 (Korea1K)
HGVS:: NC_000021.9:g.42570189_42570190insCGGCC, NC_000021.8:g.43990299_43990300insCGGCC, NG_033931.1:g.75558_75559insCGGCC

Select item 14911737946.

rs1491173794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 21:42519964 (GRCh38)
21:43940074 (GRCh37)
Canonical SPDI:: NC_000021.9:42519962:TTT:T
Gene:: SLC37A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016523/196 (ALFA)
-=0.003333/2 (NorthernSweden)
-=0.007483/125 (TOMMO)
-=0.018664/2450 (GnomAD)
HGVS:: NC_000021.9:g.42519964_42519965del, NC_000021.8:g.43940074_43940075del, NG_033931.1:g.25333_25334del, XM_011529614.4:c.-5067_-5066del, XM_011529614.3:c.-5067_-5066del, XM_011529615.3:c.-5067_-5066del, XM_011529615.2:c.-5067_-5066del, XM_017028376.3:c.-5067_-5066del, XM_017028376.2:c.-5067_-5066del

Select item 14911428707.

rs1491142870 has merged into rs1555882111 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 21:42530658 (GRCh38)
21:43950768 (GRCh37)
Canonical SPDI:: NC_000021.9:42530654:CCCCC:CCC,NC_000021.9:42530654:CCCCC:CCCC,NC_000021.9:42530654:CCCCC:CCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCCCCCC,NC_000021.9:42530654:CCCCC:CCCCCCCCCCCCCCC
Gene:: SLC37A1 (Varview), LOC107987299 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.00279/78 (TOMMO)
CCCC=0.00549/3 (NorthernSweden)
HGVS:: NC_000021.9:g.42530658_42530659del, NC_000021.9:g.42530659del, NC_000021.9:g.42530659dup, NC_000021.9:g.42530658_42530659dup, NC_000021.9:g.42530657_42530659dup, NC_000021.9:g.42530656_42530659dup, NC_000021.9:g.42530655_42530659dup, NC_000021.9:g.42530659_42530660insCCCCCC, NC_000021.9:g.42530659_42530660insCCCCCCC, NC_000021.9:g.42530659_42530660insCCCCCCCC, NC_000021.9:g.42530659_42530660insCCCCCCCCC, NC_000021.9:g.42530659_42530660insCCCCCCCCCC, NC_000021.8:g.43950768_43950769del, NC_000021.8:g.43950769del, NC_000021.8:g.43950769dup, NC_000021.8:g.43950768_43950769dup, NC_000021.8:g.43950767_43950769dup, NC_000021.8:g.43950766_43950769dup, NC_000021.8:g.43950765_43950769dup, NC_000021.8:g.43950769_43950770insCCCCCC, NC_000021.8:g.43950769_43950770insCCCCCCC, NC_000021.8:g.43950769_43950770insCCCCCCCC, NC_000021.8:g.43950769_43950770insCCCCCCCCC, NC_000021.8:g.43950769_43950770insCCCCCCCCCC, NG_033931.1:g.36027_36028del, NG_033931.1:g.36028del, NG_033931.1:g.36028dup, NG_033931.1:g.36027_36028dup, NG_033931.1:g.36026_36028dup, NG_033931.1:g.36025_36028dup, NG_033931.1:g.36024_36028dup, NG_033931.1:g.36028_36029insCCCCCC, NG_033931.1:g.36028_36029insCCCCCCC, NG_033931.1:g.36028_36029insCCCCCCCC, NG_033931.1:g.36028_36029insCCCCCCCCC, NG_033931.1:g.36028_36029insCCCCCCCCCC

Select item 14911309428.

rs1491130942 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC [Show Flanks]
Chromosome:: 21:42572678 (GRCh38)
21:43992789 (GRCh37)
Canonical SPDI:: NC_000021.9:42572678::C,NC_000021.9:42572678::CAC,NC_000021.9:42572678::CACAC
Gene:: SLC37A1 (Varview), LOC101928212 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
C=0.000248/4 (TOMMO)
C=0.027602/7306 (TOPMED)
HGVS:: NC_000021.9:g.42572678_42572679insC, NC_000021.9:g.42572678_42572679insCAC, NC_000021.9:g.42572678_42572679insCACAC, NC_000021.8:g.43992788_43992789insC, NC_000021.8:g.43992788_43992789insCAC, NC_000021.8:g.43992788_43992789insCACAC, NG_033931.1:g.78047_78048insC, NG_033931.1:g.78047_78048insCAC, NG_033931.1:g.78047_78048insCACAC

Select item 14910737099.

rs1491073709 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 21:42512231 (GRCh38)
21:43932341 (GRCh37)
Canonical SPDI:: NC_000021.9:42512229:GAG:G
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001096/13 (ALFA)
-=0.000518/54 (GnomAD)
-=0.001249/8 (1000Genomes)
HGVS:: NC_000021.9:g.42512231_42512232del, NC_000021.8:g.43932341_43932342del, NG_033931.1:g.17600_17601del

Select item 149106043310.

rs1491060433 has merged into rs35483329 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 21:42559887 (GRCh38)
21:43979997 (GRCh37)
Canonical SPDI:: NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:42559875:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.42559887_42559890del, NC_000021.9:g.42559889_42559890del, NC_000021.9:g.42559890del, NC_000021.9:g.42559890dup, NC_000021.9:g.42559889_42559890dup, NC_000021.9:g.42559888_42559890dup, NC_000021.9:g.42559887_42559890dup, NC_000021.8:g.43979997_43980000del, NC_000021.8:g.43979999_43980000del, NC_000021.8:g.43980000del, NC_000021.8:g.43980000dup, NC_000021.8:g.43979999_43980000dup, NC_000021.8:g.43979998_43980000dup, NC_000021.8:g.43979997_43980000dup, NG_033931.1:g.65256_65259del, NG_033931.1:g.65258_65259del, NG_033931.1:g.65259del, NG_033931.1:g.65259dup, NG_033931.1:g.65258_65259dup, NG_033931.1:g.65257_65259dup, NG_033931.1:g.65256_65259dup

Select item 149102596211.

rs1491025962 has merged into rs66963176 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 21:42557792 (GRCh38)
21:43977902 (GRCh37)
Canonical SPDI:: NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTT,NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:42557784:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.098/491 (1000Genomes)
HGVS:: NC_000021.9:g.42557792_42557796del, NC_000021.9:g.42557795_42557796del, NC_000021.9:g.42557796del, NC_000021.9:g.42557796dup, NC_000021.9:g.42557795_42557796dup, NC_000021.9:g.42557794_42557796dup, NC_000021.8:g.43977902_43977906del, NC_000021.8:g.43977905_43977906del, NC_000021.8:g.43977906del, NC_000021.8:g.43977906dup, NC_000021.8:g.43977905_43977906dup, NC_000021.8:g.43977904_43977906dup, NG_033931.1:g.63161_63165del, NG_033931.1:g.63164_63165del, NG_033931.1:g.63165del, NG_033931.1:g.63165dup, NG_033931.1:g.63164_63165dup, NG_033931.1:g.63163_63165dup

Select item 149099893312.

rs1490998933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:42516992 (GRCh38)
21:43937102 (GRCh37)
Canonical SPDI:: NC_000021.9:42516991:T:A,NC_000021.9:42516991:T:C
Gene:: SLC37A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42516992T>A, NC_000021.9:g.42516992T>C, NC_000021.8:g.43937102T>A, NC_000021.8:g.43937102T>C, NG_033931.1:g.22361T>A, NG_033931.1:g.22361T>C

Select item 149099183713.

rs1490991837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42502090 (GRCh38)
21:43922200 (GRCh37)
Canonical SPDI:: NC_000021.9:42502089:T:C
Gene:: SLC37A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000021.9:g.42502090T>C, NC_000021.8:g.43922200T>C, NG_033931.1:g.7459T>C

Select item 149086159014.

rs1490861590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:42537757 (GRCh38)
21:43957867 (GRCh37)
Canonical SPDI:: NC_000021.9:42537756:A:C
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42537757A>C, NC_000021.8:g.43957867A>C, NG_033931.1:g.43126A>C

Select item 149084248015.

rs1490842480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:42568600 (GRCh38)
21:43988710 (GRCh37)
Canonical SPDI:: NC_000021.9:42568599:G:A,NC_000021.9:42568599:G:C
Gene:: SLC37A1 (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_000021.9:g.42568600G>A, NC_000021.9:g.42568600G>C, NC_000021.8:g.43988710G>A, NC_000021.8:g.43988710G>C, NG_033931.1:g.73969G>A, NG_033931.1:g.73969G>C

Select item 149080309216.

rs1490803092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 21:42538772 (GRCh38)
21:43958882 (GRCh37)
Canonical SPDI:: NC_000021.9:42538768:TTTTT:TTT
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42538772_42538773del, NC_000021.8:g.43958882_43958883del, NG_033931.1:g.44141_44142del

Select item 149079800017.

rs1490798000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:42569965 (GRCh38)
21:43990075 (GRCh37)
Canonical SPDI:: NC_000021.9:42569964:C:A,NC_000021.9:42569964:C:G
Gene:: SLC37A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
G=0./0 (KOREAN)
A=0.000022/3 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000021.9:g.42569965C>A, NC_000021.9:g.42569965C>G, NC_000021.8:g.43990075C>A, NC_000021.8:g.43990075C>G, NG_033931.1:g.75334C>A, NG_033931.1:g.75334C>G

Select item 149073531518.

rs1490735315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:42499418 (GRCh38)
21:43919528 (GRCh37)
Canonical SPDI:: NC_000021.9:42499417:T:A
Gene:: SLC37A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42499418T>A, NC_000021.8:g.43919528T>A, NG_033931.1:g.4787T>A, NG_034257.1:g.1937A>T

Select item 149069038519.

rs1490690385 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAT>- [Show Flanks]
Chromosome:: 21:42581406 (GRCh38)
21:44001516 (GRCh37)
Canonical SPDI:: NC_000021.9:42581401:AAATAAAAT:AAAT
Gene:: SLC37A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42581406_42581410del, NC_000021.8:g.44001516_44001520del, NG_033931.1:g.86775_86779del, NM_018964.4:c.*1046_*1050del, NM_018964.3:c.*1046_*1050del, NM_001320537.2:c.*1046_*1050del, NM_001320537.1:c.*1046_*1050del, XM_011529615.3:c.*1046_*1050del, XM_011529615.2:c.*1046_*1050del, XM_011529615.1:c.*1046_*1050del, XM_017028376.3:c.*1056_*1060del, XM_017028376.2:c.*1056_*1060del, XM_017028376.1:c.*1056_*1060del, XM_017028379.2:c.*1046_*1050del, XM_017028379.1:c.*1046_*1050del, XM_017028377.2:c.*1046_*1050del, XM_017028377.1:c.*1046_*1050del, XM_017028381.2:c.*1056_*1060del, XM_017028381.1:c.*1056_*1060del, XM_017028380.2:c.*1046_*1050del, XM_017028380.1:c.*1046_*1050del, XM_047440843.1:c.*1056_*1060del, XM_047440842.1:c.*1056_*1060del, XM_047440845.1:c.*1056_*1060del, XM_047440844.1:c.*1056_*1060del, XM_047440849.1:c.*1046_*1050del, XM_047440850.1:c.*1056_*1060del

Select item 149068456020.

rs1490684560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42500434 (GRCh38)
21:43920544 (GRCh37)
Canonical SPDI:: NC_000021.9:42500433:T:C
Gene:: SLC37A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000021.9:g.42500434T>C, NC_000021.8:g.43920544T>C, NG_033931.1:g.5803T>C, NG_034257.1:g.921A>G

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