SNP Links for Gene (Select 80723) - SNP

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Select item 14913060081.

rs1491306008 has merged into rs11425379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:136837855 (GRCh38)
3:136556697 (GRCh37)
Canonical SPDI:: NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:136837843:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4085/2046 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000003.12:g.136837855_136837857del, NC_000003.12:g.136837856_136837857del, NC_000003.12:g.136837857del, NC_000003.12:g.136837857dup, NC_000003.12:g.136837856_136837857dup, NC_000003.12:g.136837855_136837857dup, NC_000003.12:g.136837848_136837857dup, NC_000003.11:g.136556697_136556699del, NC_000003.11:g.136556698_136556699del, NC_000003.11:g.136556699del, NC_000003.11:g.136556699dup, NC_000003.11:g.136556698_136556699dup, NC_000003.11:g.136556697_136556699dup, NC_000003.11:g.136556690_136556699dup

Select item 14913040802.

rs1491304080 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:136841734 (GRCh38)
3:136560576 (GRCh37)
Canonical SPDI:: NC_000003.12:136841731:AAAA:AA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00007/6 (GnomAD)
HGVS:: NC_000003.12:g.136841734_136841735del, NC_000003.11:g.136560576_136560577del

Select item 14912342743.

rs1491234274 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:136837143 (GRCh38)
3:136555985 (GRCh37)
Canonical SPDI:: NC_000003.12:136837142:AA:
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136837143_136837144del, NC_000003.11:g.136555985_136555986del

Select item 14912313254.

rs1491231325 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:136820994 (GRCh38)
3:136539836 (GRCh37)
Canonical SPDI:: NC_000003.12:136820993:TT:
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/1 (GnomAD)
HGVS:: NC_000003.12:g.136820994_136820995del, NC_000003.11:g.136539836_136539837del

Select item 14911941585.

rs1491194158 [Homo sapiens]

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

Select item 14911452276.

rs1491145227 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:136844797 (GRCh38)
3:136563639 (GRCh37)
Canonical SPDI:: NC_000003.12:136844796:CA:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.136844797_136844798del, NC_000003.11:g.136563639_136563640del

Select item 14910999447.

rs1491099944 has merged into rs10691819 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATAAATAAATAAATAAATAAATA>-,AATAAATA,AATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA [Show Flanks]
Chromosome:: 3:136841750 (GRCh38)
3:136560592 (GRCh37)
Canonical SPDI:: NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAATA=0./0 (ALFA)
AAATAAAT=0.1777/890 (1000Genomes)
HGVS:: NC_000003.12:g.136841734AATA[4], NC_000003.12:g.136841734AATA[6], NC_000003.12:g.136841734AATA[7], NC_000003.12:g.136841734AATA[8], NC_000003.12:g.136841734AATA[9], NC_000003.12:g.136841734AATA[10], NC_000003.12:g.136841734AATA[12], NC_000003.12:g.136841734AATA[13], NC_000003.12:g.136841734AATA[14], NC_000003.12:g.136841734AATA[15], NC_000003.12:g.136841734AATA[16], NC_000003.11:g.136560576AATA[4], NC_000003.11:g.136560576AATA[6], NC_000003.11:g.136560576AATA[7], NC_000003.11:g.136560576AATA[8], NC_000003.11:g.136560576AATA[9], NC_000003.11:g.136560576AATA[10], NC_000003.11:g.136560576AATA[12], NC_000003.11:g.136560576AATA[13], NC_000003.11:g.136560576AATA[14], NC_000003.11:g.136560576AATA[15], NC_000003.11:g.136560576AATA[16]

Select item 14910419848.

rs1491041984 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:136847312 (GRCh38)
3:136566154 (GRCh37)
Canonical SPDI:: NC_000003.12:136847311:TA:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.136847312_136847313del, NC_000003.11:g.136566154_136566155del

Select item 14910136319.

rs1491013631 has merged into rs36115986 [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,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:136843336 (GRCh38)
3:136562178 (GRCh37)
Canonical SPDI:: NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.136843336_136843351del, NC_000003.12:g.136843337_136843351del, NC_000003.12:g.136843338_136843351del, NC_000003.12:g.136843339_136843351del, NC_000003.12:g.136843340_136843351del, NC_000003.12:g.136843341_136843351del, NC_000003.12:g.136843342_136843351del, NC_000003.12:g.136843343_136843351del, NC_000003.12:g.136843344_136843351del, NC_000003.12:g.136843345_136843351del, NC_000003.12:g.136843346_136843351del, NC_000003.12:g.136843347_136843351del, NC_000003.12:g.136843348_136843351del, NC_000003.12:g.136843349_136843351del, NC_000003.12:g.136843350_136843351del, NC_000003.12:g.136843351del, NC_000003.12:g.136843351dup, NC_000003.12:g.136843350_136843351dup, NC_000003.12:g.136843349_136843351dup, NC_000003.12:g.136843348_136843351dup, NC_000003.12:g.136843347_136843351dup, NC_000003.12:g.136843346_136843351dup, NC_000003.12:g.136843344_136843351dup, NC_000003.12:g.136843343_136843351dup, NC_000003.12:g.136843342_136843351dup, NC_000003.11:g.136562178_136562193del, NC_000003.11:g.136562179_136562193del, NC_000003.11:g.136562180_136562193del, NC_000003.11:g.136562181_136562193del, NC_000003.11:g.136562182_136562193del, NC_000003.11:g.136562183_136562193del, NC_000003.11:g.136562184_136562193del, NC_000003.11:g.136562185_136562193del, NC_000003.11:g.136562186_136562193del, NC_000003.11:g.136562187_136562193del, NC_000003.11:g.136562188_136562193del, NC_000003.11:g.136562189_136562193del, NC_000003.11:g.136562190_136562193del, NC_000003.11:g.136562191_136562193del, NC_000003.11:g.136562192_136562193del, NC_000003.11:g.136562193del, NC_000003.11:g.136562193dup, NC_000003.11:g.136562192_136562193dup, NC_000003.11:g.136562191_136562193dup, NC_000003.11:g.136562190_136562193dup, NC_000003.11:g.136562189_136562193dup, NC_000003.11:g.136562188_136562193dup, NC_000003.11:g.136562186_136562193dup, NC_000003.11:g.136562185_136562193dup, NC_000003.11:g.136562184_136562193dup

Select item 149099473510.

rs1490994735 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:136849471 (GRCh38)
3:136568313 (GRCh37)
Canonical SPDI:: NC_000003.12:136849470:AC:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0083/37 (ALFA)
HGVS:: NC_000003.12:g.136849471_136849472del, NC_000003.11:g.136568313_136568314del

Select item 149085933911.

rs1490859339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136844705 (GRCh38)
3:136563547 (GRCh37)
Canonical SPDI:: NC_000003.12:136844704:C:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.136844705C>A, NC_000003.11:g.136563547C>A

Select item 149077863212.

rs1490778632 has merged into rs1036038255 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:136821447 (GRCh38)
3:136540289 (GRCh37)
Canonical SPDI:: NC_000003.12:136821446:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:136821446:AAAAAAAAAA:AAAAAAAAAAA
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.136821456del, NC_000003.12:g.136821456dup, NC_000003.11:g.136540298del, NC_000003.11:g.136540298dup

Select item 149065621513.

rs1490656215 [Homo sapiens]

Variant type:: DEL
Alleles:: GCTGTA>- [Show Flanks]
Chromosome:: 3:136821800 (GRCh38)
3:136540642 (GRCh37)
Canonical SPDI:: NC_000003.12:136821799:GCTGTA:
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136821800_136821805del, NC_000003.11:g.136540642_136540647del

Select item 149063957414.

rs1490639574 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 3:136827368 (GRCh38)
3:136546210 (GRCh37)
Canonical SPDI:: NC_000003.12:136827361:CACCACCAC:CACCAC
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.136827362CAC[2], NC_000003.11:g.136546204CAC[2]

Select item 149059828615.

rs1490598286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136837725 (GRCh38)
3:136556567 (GRCh37)
Canonical SPDI:: NC_000003.12:136837724:C:T
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.136837725C>T, NC_000003.11:g.136556567C>T

Select item 149050405716.

rs1490504057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136850465 (GRCh38)
3:136569307 (GRCh37)
Canonical SPDI:: NC_000003.12:136850464:C:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.136850465C>A, NC_000003.11:g.136569307C>A, XM_006713773.5:c.-3823C>A, XM_006713773.4:c.-3823C>A, XM_047449027.1:c.-3810C>A

Select item 149042228017.

rs1490422280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:136820853 (GRCh38)
3:136539695 (GRCh37)
Canonical SPDI:: NC_000003.12:136820852:T:A
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.136820853T>A, NC_000003.11:g.136539695T>A

Select item 149033922818.

rs1490339228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:136845894 (GRCh38)
3:136564737 (GRCh37)
Canonical SPDI:: NC_000003.12:136845894:T:TT
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.136845895dup, NC_000003.11:g.136564737dup

Select item 149004272119.

rs1490042721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136844962 (GRCh38)
3:136563804 (GRCh37)
Canonical SPDI:: NC_000003.12:136844961:G:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.136844962G>A, NC_000003.11:g.136563804G>A

Select item 148998853320.

rs1489988533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:136820522 (GRCh38)
3:136539364 (GRCh37)
Canonical SPDI:: NC_000003.12:136820521:A:C,NC_000003.12:136820521:A:T
Gene:: SLC35G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136820522A>C, NC_000003.12:g.136820522A>T, NC_000003.11:g.136539364A>C, NC_000003.11:g.136539364A>T

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