SNP Links for Gene (Select 5625) - SNP

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Select item 14911683201.

rs1491168320 has merged into rs371699741 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 22:18928813 (GRCh38)
22:18916326 (GRCh37)
Canonical SPDI:: NC_000022.11:18928811:CAC:C,NC_000022.11:18928811:CAC:CACAC
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.04679/555 (ALFA)
-=0.00134/17 (TOMMO)
CA=0.28047/1040 (TWINSUK)
CA=0.30618/1180 (ALSPAC)
HGVS:: NC_000022.11:g.18928813_18928814del, NC_000022.11:g.18928813_18928814dup, NC_000022.10:g.18916326_18916327del, NC_000022.10:g.18916326_18916327dup, NG_008226.3:g.12741_12742del, NG_008226.3:g.12741_12742dup

Select item 14905579692.

rs1490557969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 22:18936596 (GRCh38)
22:18924109 (GRCh37)
Canonical SPDI:: NC_000022.11:18936593:AGGAG:AG
Gene:: PRODH (Varview), LOC122455341 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.18936596_18936598del, NC_000022.10:g.18924109_18924111del, NG_008226.3:g.4958_4960del, NG_042897.1:g.422_424del

Select item 14905500303.

rs1490550030 [Homo sapiens]

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

Select item 14905425644.

rs1490542564 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 22:18938057 (GRCh38)
22:18925570 (GRCh37)
Canonical SPDI:: NC_000022.11:18938051:TCTCTCTCT:TCTCT
Gene:: PRODH (Varview), LOC122455341 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.18938053CT[2], NC_000022.10:g.18925566CT[2], NG_008226.3:g.3495GA[2], NG_042897.1:g.1879CT[2]

Select item 14902977065.

rs1490297706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18936149 (GRCh38)
22:18923662 (GRCh37)
Canonical SPDI:: NC_000022.11:18936148:G:A
Gene:: PRODH (Varview), LOC122455341 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000022.11:g.18936149G>A, NC_000022.10:g.18923662G>A, NG_008226.3:g.5405C>T, NM_016335.6:c.139C>T, NM_016335.5:c.139C>T, NM_016335.4:c.139C>T, NM_001368249.2:c.139C>T, NM_001368249.1:c.139C>T, NP_057419.5:p.Arg47Trp

Select item 14901455546.

rs1490145554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18919422 (GRCh38)
22:18906935 (GRCh37)
Canonical SPDI:: NC_000022.11:18919421:A:G
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18919422A>G, NC_000022.10:g.18906935A>G, NG_008226.3:g.22132T>C

Select item 14900310057.

rs1490031005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:18919845 (GRCh38)
22:18907358 (GRCh37)
Canonical SPDI:: NC_000022.11:18919844:C:A
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.18919845C>A, NC_000022.10:g.18907358C>A, NG_008226.3:g.21709G>T

Select item 14900270888.

rs1490027088 [Homo sapiens]

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

Select item 14896580429.

rs1489658042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18937436 (GRCh38)
22:18924949 (GRCh37)
Canonical SPDI:: NC_000022.11:18937435:G:A
Gene:: PRODH (Varview), LOC122455341 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.18937436G>A, NC_000022.10:g.18924949G>A, NG_008226.3:g.4118C>T, NG_042897.1:g.1262G>A, NR_173080.1:n.62G>A

Select item 148957483210.

rs1489574832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18918290 (GRCh38)
22:18905803 (GRCh37)
Canonical SPDI:: NC_000022.11:18918289:G:A
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/1 (GnomAD)
HGVS:: NC_000022.11:g.18918290G>A, NC_000022.10:g.18905803G>A, NG_008226.3:g.23264C>T

Select item 148951477711.

rs1489514777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:18918357 (GRCh38)
22:18905870 (GRCh37)
Canonical SPDI:: NC_000022.11:18918356:G:T
Gene:: PRODH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18918357G>T, NC_000022.10:g.18905870G>T, NG_008226.3:g.23197C>A, NM_016335.6:c.1386C>A, NM_016335.5:c.1386C>A, NM_016335.4:c.1386C>A, NM_001195226.2:c.1062C>A, NM_001195226.1:c.1062C>A, NM_001368250.2:c.1062C>A, NM_001368250.1:c.1062C>A, NM_001368249.2:c.1386C>A, NM_001368249.1:c.1386C>A, NM_005974.1:c.1134C>A

Select item 148936406012.

rs1489364060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:18933413 (GRCh38)
22:18920926 (GRCh37)
Canonical SPDI:: NC_000022.11:18933412:T:C
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.18933413T>C, NC_000022.10:g.18920926T>C, NG_008226.3:g.8141A>G

Select item 148934787513.

rs1489347875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18936729 (GRCh38)
22:18924242 (GRCh37)
Canonical SPDI:: NC_000022.11:18936728:G:A
Gene:: PRODH (Varview), LOC122455341 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.18936729G>A, NC_000022.10:g.18924242G>A, NG_008226.3:g.4825C>T, NG_042897.1:g.555G>A

Select item 148928160314.

rs1489281603 [Homo sapiens]

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

Select item 148920622415.

rs1489206224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18923852 (GRCh38)
22:18911365 (GRCh37)
Canonical SPDI:: NC_000022.11:18923851:A:G
Gene:: PRODH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
HGVS:: NC_000022.11:g.18923852A>G, NC_000022.10:g.18911365A>G, NG_008226.3:g.17702T>C

Select item 148872594316.

rs1488725943 [Homo sapiens]

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

Select item 148852593717.

rs1488525937 [Homo sapiens]

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

Select item 148838744918.

rs1488387449 [Homo sapiens]

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

Select item 148835896419.

rs1488358964 [Homo sapiens]

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

Select item 148809792520.

rs1488097925 [Homo sapiens]

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

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