SNP Links for Nucleotide (Select 908212445) - SNP

Links from Nucleotide

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Select item 14915361881.

rs1491536188 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:36997466 (GRCh38)
13:37571603 (GRCh37)
Canonical SPDI:: NC_000013.11:36997465:CA:
Gene:: ALG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01922/228 (ALFA)
-=0.00139/46 (GnomAD)
-=0.00823/228 (TOMMO)
HGVS:: NC_000013.11:g.36997466_36997467del, NC_000013.10:g.37571603_37571604del, NG_042275.1:g.1926_1927del

Select item 14912913782.

rs1491291378 has merged into rs57878611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36997475 (GRCh38)
13:37571612 (GRCh37)
Canonical SPDI:: NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36997466:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3309/1657 (1000Genomes)
HGVS:: NC_000013.11:g.36997475_36997488del, NC_000013.11:g.36997477_36997488del, NC_000013.11:g.36997482_36997488del, NC_000013.11:g.36997483_36997488del, NC_000013.11:g.36997484_36997488del, NC_000013.11:g.36997485_36997488del, NC_000013.11:g.36997486_36997488del, NC_000013.11:g.36997487_36997488del, NC_000013.11:g.36997488del, NC_000013.11:g.36997488dup, NC_000013.11:g.36997487_36997488dup, NC_000013.11:g.36997486_36997488dup, NC_000013.11:g.36997485_36997488dup, NC_000013.11:g.36997484_36997488dup, NC_000013.11:g.36997483_36997488dup, NC_000013.11:g.36997482_36997488dup, NC_000013.11:g.36997481_36997488dup, NC_000013.11:g.36997479_36997488dup, NC_000013.11:g.36997478_36997488dup, NC_000013.11:g.36997471_36997488dup, NC_000013.10:g.37571612_37571625del, NC_000013.10:g.37571614_37571625del, NC_000013.10:g.37571619_37571625del, NC_000013.10:g.37571620_37571625del, NC_000013.10:g.37571621_37571625del, NC_000013.10:g.37571622_37571625del, NC_000013.10:g.37571623_37571625del, NC_000013.10:g.37571624_37571625del, NC_000013.10:g.37571625del, NC_000013.10:g.37571625dup, NC_000013.10:g.37571624_37571625dup, NC_000013.10:g.37571623_37571625dup, NC_000013.10:g.37571622_37571625dup, NC_000013.10:g.37571621_37571625dup, NC_000013.10:g.37571620_37571625dup, NC_000013.10:g.37571619_37571625dup, NC_000013.10:g.37571618_37571625dup, NC_000013.10:g.37571616_37571625dup, NC_000013.10:g.37571615_37571625dup, NC_000013.10:g.37571608_37571625dup, NG_042275.1:g.1935_1948del, NG_042275.1:g.1937_1948del, NG_042275.1:g.1942_1948del, NG_042275.1:g.1943_1948del, NG_042275.1:g.1944_1948del, NG_042275.1:g.1945_1948del, NG_042275.1:g.1946_1948del, NG_042275.1:g.1947_1948del, NG_042275.1:g.1948del, NG_042275.1:g.1948dup, NG_042275.1:g.1947_1948dup, NG_042275.1:g.1946_1948dup, NG_042275.1:g.1945_1948dup, NG_042275.1:g.1944_1948dup, NG_042275.1:g.1943_1948dup, NG_042275.1:g.1942_1948dup, NG_042275.1:g.1941_1948dup, NG_042275.1:g.1939_1948dup, NG_042275.1:g.1938_1948dup, NG_042275.1:g.1931_1948dup

Select item 14911264663.

rs1491126466 has merged into rs1491081175 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:37005885 (GRCh38)
13:37580022 (GRCh37)
Canonical SPDI:: NC_000013.11:37005884:AG:
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004721/56 (ALFA)
-=0./0 (ExAC)
-=0.000279/52 (GnomAD_exomes)
-=0.004458/619 (GnomAD)
HGVS:: NC_000013.11:g.37005885_37005886del, NC_000013.10:g.37580022_37580023del, NG_042275.1:g.10345_10346del

Select item 14910811754.

rs1491081175 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:37005885 (GRCh38)
13:37580022 (GRCh37)
Canonical SPDI:: NC_000013.11:37005884:AG:
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004721/56 (ALFA)
-=0./0 (ExAC)
-=0.000279/52 (GnomAD_exomes)
-=0.004458/619 (GnomAD)
HGVS:: NC_000013.11:g.37005885_37005886del, NC_000013.10:g.37580022_37580023del, NG_042275.1:g.10345_10346del

Select item 14909970025.

rs1490997002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:37000672 (GRCh38)
13:37574809 (GRCh37)
Canonical SPDI:: NC_000013.11:37000671:C:T
Gene:: EXOSC8 (Varview), ALG5 (Varview)
Functional Consequence:: 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_000013.11:g.37000672C>T, NC_000013.10:g.37574809C>T, NG_042275.1:g.5132C>T, NM_181503.2:c.-134C>T

Select item 14909957516.

rs1490995751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:37007949 (GRCh38)
13:37582086 (GRCh37)
Canonical SPDI:: NC_000013.11:37007948:A:C
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000178/25 (GnomAD)
HGVS:: NC_000013.11:g.37007949A>C, NC_000013.10:g.37582086A>C, NG_042275.1:g.12409A>C

Select item 14908430077.

rs1490843007 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,GA [Show Flanks]
Chromosome:: 13:37005861 (GRCh38)
13:37579999 (GRCh37)
Canonical SPDI:: NC_000013.11:37005861::A,NC_000013.11:37005861::AA,NC_000013.11:37005861::GA
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00142/40 (TOMMO)
HGVS:: NC_000013.11:g.37005861_37005862insA, NC_000013.11:g.37005861_37005862insAA, NC_000013.11:g.37005861_37005862insGA, NC_000013.10:g.37579998_37579999insA, NC_000013.10:g.37579998_37579999insAA, NC_000013.10:g.37579998_37579999insGA, NG_042275.1:g.10321_10322insA, NG_042275.1:g.10321_10322insAA, NG_042275.1:g.10321_10322insGA

Select item 14903311098.

rs1490331109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 13:37009829 (GRCh38)
13:37583966 (GRCh37)
Canonical SPDI:: NC_000013.11:37009828:A:C,NC_000013.11:37009828:A:G,NC_000013.11:37009828:A:T
Gene:: EXOSC8 (Varview), SUPT20H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.37009829A>C, NC_000013.11:g.37009829A>G, NC_000013.11:g.37009829A>T, NC_000013.10:g.37583966A>C, NC_000013.10:g.37583966A>G, NC_000013.10:g.37583966A>T, NG_042275.1:g.14289A>C, NG_042275.1:g.14289A>G, NG_042275.1:g.14289A>T

Select item 14898468449.

rs1489846844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 13:37000918 (GRCh38)
13:37575055 (GRCh37)
Canonical SPDI:: NC_000013.11:37000917:C:A,NC_000013.11:37000917:C:G,NC_000013.11:37000917:C:T
Gene:: EXOSC8 (Varview), ALG5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.37000918C>A, NC_000013.11:g.37000918C>G, NC_000013.11:g.37000918C>T, NC_000013.10:g.37575055C>A, NC_000013.10:g.37575055C>G, NC_000013.10:g.37575055C>T, NG_042275.1:g.5378C>A, NG_042275.1:g.5378C>G, NG_042275.1:g.5378C>T

Select item 148956421010.

rs1489564210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:36998385 (GRCh38)
13:37572522 (GRCh37)
Canonical SPDI:: NC_000013.11:36998384:G:C
Gene:: ALG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000013.11:g.36998385G>C, NC_000013.10:g.37572522G>C, NG_042275.1:g.2845G>C

Select item 148949595211.

rs1489495952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:37009484 (GRCh38)
13:37583621 (GRCh37)
Canonical SPDI:: NC_000013.11:37009483:C:G
Gene:: EXOSC8 (Varview), SUPT20H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.37009484C>G, NC_000013.10:g.37583621C>G, NG_042275.1:g.13944C>G, NM_181503.3:c.*185C>G, NM_181503.2:c.*185C>G, XM_005266449.5:c.*188G>C, XM_005266449.3:c.*188G>C, XM_005266449.2:c.*188G>C, XM_005266456.5:c.*188G>C, XM_005266456.3:c.*188G>C, XM_005266456.2:c.*188G>C, XM_005266458.5:c.*188G>C, XM_005266458.3:c.*188G>C, XM_005266458.2:c.*188G>C, XM_005266451.5:c.*188G>C, XM_005266451.3:c.*188G>C, XM_005266451.2:c.*188G>C, XM_005266454.5:c.*188G>C, XM_005266454.3:c.*188G>C, XM_005266454.2:c.*188G>C, XM_005266457.5:c.*188G>C, XM_005266457.3:c.*188G>C, XM_005266457.2:c.*188G>C, XM_005266462.5:c.*188G>C, XM_005266462.4:c.*188G>C, XM_005266462.3:c.*188G>C, XM_005266461.4:c.*225G>C, XM_005266461.3:c.*225G>C, XM_005266461.1:c.*225G>C, NM_017569.4:c.*225G>C, NM_017569.3:c.*225G>C, XM_005266464.4:c.*188G>C, XM_005266464.3:c.*188G>C, XM_005266465.4:c.*225G>C, XM_005266465.3:c.*225G>C, XM_005266465.2:c.*225G>C, XM_005266467.4:c.*225G>C, XM_005266467.3:c.*225G>C, XM_005266467.1:c.*225G>C, XM_005266447.3:c.*188G>C, XM_005266447.2:c.*188G>C, XM_005266455.3:c.*188G>C, XM_005266455.2:c.*188G>C, XM_017020653.3:c.*188G>C, XM_017020653.2:c.*188G>C, XM_017020653.1:c.*188G>C, XM_005266460.3:c.*225G>C, XM_005266460.2:c.*225G>C, NM_001014286.3:c.*188G>C, NM_001014286.2:c.*188G>C, XM_017020657.3:c.*188G>C, XM_017020657.2:c.*188G>C, XM_017020657.1:c.*188G>C, XM_017020660.3:c.*225G>C, XM_017020660.2:c.*225G>C, XM_017020660.1:c.*225G>C, NM_001278482.2:c.*225G>C, NM_001278482.1:c.*225G>C, NM_001278480.2:c.*225G>C, NM_001278480.1:c.*225G>C, XM_017020654.2:c.*188G>C, XM_017020654.1:c.*188G>C, XM_017020655.2:c.*188G>C, XM_017020655.1:c.*188G>C, XM_024449379.2:c.*188G>C, XM_024449379.1:c.*188G>C, NM_001278481.2:c.*225G>C, NM_001278481.1:c.*225G>C, XM_017020658.2:c.*225G>C, XM_017020658.1:c.*225G>C, XM_017020659.2:c.*225G>C, XM_017020659.1:c.*225G>C, XM_017020661.2:c.*225G>C, XM_017020661.1:c.*225G>C, XM_047430444.1:c.*188G>C, XM_047430448.1:c.*188G>C, XM_047430449.1:c.*225G>C, XM_047430445.1:c.*188G>C, XM_047430447.1:c.*188G>C, XM_047430450.1:c.*225G>C, XM_047430452.1:c.*225G>C, XM_047430451.1:c.*225G>C, XM_047430456.1:c.*188G>C, XM_047430457.1:c.*188G>C, XM_047430453.1:c.*225G>C, XM_047430454.1:c.*225G>C, XM_047430458.1:c.*188G>C, XM_047430459.1:c.*188G>C, XM_047430462.1:c.*225G>C, XM_047430463.1:c.*225G>C, XM_047430460.1:c.*188G>C, XM_047430464.1:c.*225G>C

Select item 148943551412.

rs1489435514 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 13:36995707 (GRCh38)
13:37569844 (GRCh37)
Canonical SPDI:: NC_000013.11:36995703:CTCTC:CTC
Gene:: ALG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36995705TC[1], NC_000013.10:g.37569842TC[1], NG_042275.1:g.165TC[1]

Select item 148943346613.

rs1489433466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:37005521 (GRCh38)
13:37579658 (GRCh37)
Canonical SPDI:: NC_000013.11:37005520:A:G
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.37005521A>G, NC_000013.10:g.37579658A>G, NG_042275.1:g.9981A>G

Select item 148939205514.

rs1489392055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:37008397 (GRCh38)
13:37582534 (GRCh37)
Canonical SPDI:: NC_000013.11:37008396:C:G
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.37008397C>G, NC_000013.10:g.37582534C>G, NG_042275.1:g.12857C>G

Select item 148922396615.

rs1489223966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:37002222 (GRCh38)
13:37576359 (GRCh37)
Canonical SPDI:: NC_000013.11:37002221:A:G
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.37002222A>G, NC_000013.10:g.37576359A>G, NG_042275.1:g.6682A>G

Select item 148917217416.

rs1489172174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:37001399 (GRCh38)
13:37575536 (GRCh37)
Canonical SPDI:: NC_000013.11:37001398:A:G,NC_000013.11:37001398:A:T
Gene:: EXOSC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.37001399A>G, NC_000013.11:g.37001399A>T, NC_000013.10:g.37575536A>G, NC_000013.10:g.37575536A>T, NG_042275.1:g.5859A>G, NG_042275.1:g.5859A>T

Select item 148886521617.

rs1488865216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:37000596 (GRCh38)
13:37574733 (GRCh37)
Canonical SPDI:: NC_000013.11:37000595:G:T
Gene:: EXOSC8 (Varview), ALG5 (Varview)
Functional Consequence:: 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_000013.11:g.37000596G>T, NC_000013.10:g.37574733G>T, NG_042275.1:g.5056G>T, NM_181503.2:c.-210G>T

Select item 148881191718.

rs1488811917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:37000666 (GRCh38)
13:37574803 (GRCh37)
Canonical SPDI:: NC_000013.11:37000665:G:C
Gene:: EXOSC8 (Varview), ALG5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.37000666G>C, NC_000013.10:g.37574803G>C, NG_042275.1:g.5126G>C, NM_181503.2:c.-140G>C

Select item 148879028819.

rs1488790288 [Homo sapiens]

Variant type:: DEL
Alleles:: GGTATG>- [Show Flanks]
Chromosome:: 13:37010205 (GRCh38)
13:37584342 (GRCh37)
Canonical SPDI:: NC_000013.11:37010204:GGTATG:
Gene:: SUPT20H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000013.11:g.37010205_37010210del, NC_000013.10:g.37584342_37584347del, NG_042275.1:g.14665_14670del

Select item 148858760120.

rs1488587601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:37000316 (GRCh38)
13:37574453 (GRCh37)
Canonical SPDI:: NC_000013.11:37000315:G:A
Gene:: EXOSC8 (Varview), ALG5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000038/5 (GnomAD)
HGVS:: NC_000013.11:g.37000316G>A, NC_000013.10:g.37574453G>A, NG_042275.1:g.4776G>A

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