SNP Links for Gene (Select 653606) - SNP

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Select item 14915262651.

rs1491526265 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:13076509 (GRCh38)
1:13217731 (GRCh37)
Canonical SPDI:: NC_000001.11:13076509::G
Gene:: PRAMEF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.13076509_13076510insG, NC_000001.10:g.13217730_13217731insC, NW_012132914.1:g.230849_230850insG, NW_015495298.1:g.72125_72126insG, NT_187517.1:g.22028_22029insG

Select item 14914156102.

rs1491415610 has merged into rs199498304 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 1:13076515 (GRCh38)
1:13217726 (GRCh37)
Canonical SPDI:: NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:13076508:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PRAMEF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.13076515_13076520del, NC_000001.11:g.13076518_13076520del, NC_000001.11:g.13076519_13076520del, NC_000001.11:g.13076520del, NC_000001.11:g.13076520dup, NC_000001.11:g.13076519_13076520dup, NC_000001.11:g.13076518_13076520dup, NC_000001.10:g.13217726_13217731del, NC_000001.10:g.13217729_13217731del, NC_000001.10:g.13217730_13217731del, NC_000001.10:g.13217731del, NC_000001.10:g.13217731dup, NC_000001.10:g.13217730_13217731dup, NC_000001.10:g.13217729_13217731dup, NW_012132914.1:g.230855_230860del, NW_012132914.1:g.230858_230860del, NW_012132914.1:g.230859_230860del, NW_012132914.1:g.230860del, NW_012132914.1:g.230860dup, NW_012132914.1:g.230859_230860dup, NW_012132914.1:g.230858_230860dup, NW_015495298.1:g.72131_72136del, NW_015495298.1:g.72134_72136del, NW_015495298.1:g.72135_72136del, NW_015495298.1:g.72136del, NW_015495298.1:g.72136dup, NW_015495298.1:g.72135_72136dup, NW_015495298.1:g.72134_72136dup, NT_187517.1:g.22034_22039del, NT_187517.1:g.22037_22039del, NT_187517.1:g.22038_22039del, NT_187517.1:g.22039del, NT_187517.1:g.22039dup, NT_187517.1:g.22038_22039dup, NT_187517.1:g.22037_22039dup

Select item 14912987423.

rs1491298742 has merged into rs780021956 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:13076095 (GRCh38)
1:13218144 (GRCh37)
Canonical SPDI:: NC_000001.11:13076094:AT:
Gene:: PRAMEF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0009/4 (ALFA)
HGVS:: NC_000001.11:g.13076095_13076096del, NC_000001.10:g.13218144_13218145del, NW_012132914.1:g.230435_230436del, NW_015495298.1:g.71711_71712del, NT_187517.1:g.21615_21616del

Select item 14907079684.

rs1490707968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13223384 (GRCh38)
1:13474741 (GRCh37)
Canonical SPDI:: NC_000001.11:13223383:G:A,NC_000001.11:13223383:G:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000001.11:g.13223384G>A, NC_000001.11:g.13223384G>T, NC_000001.10:g.13474741G>A, NC_000001.10:g.13474741G>T, NW_012132914.1:g.377724G>A, NW_012132914.1:g.377724G>T, NW_015495298.1:g.189145G>A, NW_015495298.1:g.189145G>T, NT_187517.1:g.166852G>A, NT_187517.1:g.166852G>T, NM_001099850.2:c.1388C>T, NM_001099850.2:c.1388C>A, NM_001099850.1:c.1388C>T, NM_001099850.1:c.1388C>A, NM_001100631.1:c.1394C>T, NM_001100631.1:c.1394C>A, NM_001100631.2:c.1388C>T, NM_001100631.2:c.1388C>A, NM_001291370.1:c.1388C>T, NM_001291370.1:c.1388C>A, NP_001093320.2:p.Ser463Leu, NP_001093320.2:p.Ser463Ter

Select item 14906773055.

rs1490677305 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTCA>- [Show Flanks]
Chromosome:: 1:13227722 (GRCh38)
1:13033922 (GRCh37)
Canonical SPDI:: NC_000001.11:13227721:TCTCA:
Gene:: PRAMEF18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000927/11 (ALFA)
-=0.001133/143 (GnomAD)
HGVS:: NC_000001.11:g.13227722_13227726del, NW_012132914.1:g.382062_382066del, NW_015495298.1:g.193548_193552del, NC_000001.10:g.13033922_13033926del, NT_187517.1:g.171190_171194del

Select item 14905607196.

rs1490560719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:13075249 (GRCh38)
1:13218991 (GRCh37)
Canonical SPDI:: NC_000001.11:13075248:G:A,NC_000001.11:13075248:G:C
Gene:: PRAMEF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
HGVS:: NC_000001.11:g.13075249G>A, NC_000001.11:g.13075249G>C, NC_000001.10:g.13218991C>T, NC_000001.10:g.13218991C>G, NW_012132914.1:g.229589G>A, NW_012132914.1:g.229589G>C, NW_015495298.1:g.70865G>A, NW_015495298.1:g.70865G>C, NT_187517.1:g.20769G>A, NT_187517.1:g.20769G>C

Select item 14901873527.

rs1490187352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13227885 (GRCh38)
1:13033755 (GRCh37)
Canonical SPDI:: NC_000001.11:13227884:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13227885C>T, NW_012132914.1:g.382225C>T, NW_015495298.1:g.193719C>T, NC_000001.10:g.13033755G>A, NT_187517.1:g.171353C>T

Select item 14901557098.

rs1490155709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13224240 (GRCh38)
1:13475597 (GRCh37)
Canonical SPDI:: NC_000001.11:13224239:G:A,NC_000001.11:13224239:G:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00036/10 (TOMMO)
HGVS:: NC_000001.11:g.13224240G>A, NC_000001.11:g.13224240G>T, NC_000001.10:g.13475597G>A, NC_000001.10:g.13475597G>T, NW_012132914.1:g.378580G>A, NW_012132914.1:g.378580G>T, NW_015495298.1:g.190001G>A, NW_015495298.1:g.190001G>T, NT_187517.1:g.167708G>A, NT_187517.1:g.167708G>T

Select item 14898266479.

rs1489826647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13075751 (GRCh38)
1:13218489 (GRCh37)
Canonical SPDI:: NC_000001.11:13075750:C:T
Gene:: PRAMEF25 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.13075751C>T, NC_000001.10:g.13218489G>A, NW_012132914.1:g.230091C>T, NW_015495298.1:g.71367C>T, NT_187517.1:g.21271C>T

Select item 148967361910.

rs1489673619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13226358 (GRCh38)
1:13035293 (GRCh37)
Canonical SPDI:: NC_000001.11:13226357:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.13226358C>T, NW_012132914.1:g.380698C>T, NW_015495298.1:g.192181C>T, NC_000001.10:g.13035293G>A, NT_187517.1:g.169826C>T

Select item 148966198411.

rs1489661984 has merged into rs756946341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:13223579 (GRCh38)
1:13474936 (GRCh37)
Canonical SPDI:: NC_000001.11:13223578:A:C,NC_000001.11:13223578:A:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00002/1 (ExAC)
HGVS:: NC_000001.11:g.13223579A>C, NC_000001.11:g.13223579A>G, NC_000001.10:g.13474936A>C, NC_000001.10:g.13474936A>G, NW_012132914.1:g.377919A>C, NW_012132914.1:g.377919A>G, NW_015495298.1:g.189340A>C, NW_015495298.1:g.189340A>G, NT_187517.1:g.167047A>C, NT_187517.1:g.167047A>G, NM_001099850.2:c.1193T>G, NM_001099850.2:c.1193T>C, NM_001099850.1:c.1193T>G, NM_001099850.1:c.1193T>C, NM_001100631.1:c.1199T>G, NM_001100631.1:c.1199T>C, NM_001100631.2:c.1193T>G, NM_001100631.2:c.1193T>C, NM_001291370.1:c.1193T>G, NM_001291370.1:c.1193T>C, NP_001093320.2:p.Leu398Arg, NP_001093320.2:p.Leu398Pro

Select item 148960137912.

rs1489601379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:13228071 (GRCh38)
1:13033567 (GRCh37)
Canonical SPDI:: NC_000001.11:13228070:A:C,NC_000001.11:13228070:A:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.13228071A>C, NC_000001.11:g.13228071A>G, NW_012132914.1:g.382411A>C, NW_012132914.1:g.382411A>G, NW_015495298.1:g.193907A>C, NW_015495298.1:g.193907A>G, NC_000001.10:g.13033567T>G, NC_000001.10:g.13033567T>C, NT_187517.1:g.171539A>C, NT_187517.1:g.171539A>G

Select item 148958708813.

rs1489587088 [Homo sapiens]

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

Select item 148953424514.

rs1489534245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:13224562 (GRCh38)
1:13037093 (GRCh37)
Canonical SPDI:: NC_000001.11:13224561:C:A,NC_000001.11:13224561:C:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13224562C>A, NC_000001.11:g.13224562C>G, NW_012132914.1:g.378902C>A, NW_012132914.1:g.378902C>G, NW_015495298.1:g.190381C>A, NW_015495298.1:g.190381C>G, NC_000001.10:g.13037093G>T, NC_000001.10:g.13037093G>C, NT_187517.1:g.168030C>A, NT_187517.1:g.168030C>G

Select item 148950469715.

rs1489504697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13225058 (GRCh38)
1:13036597 (GRCh37)
Canonical SPDI:: NC_000001.11:13225057:T:C
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225058T>C, NW_012132914.1:g.379398T>C, NW_015495298.1:g.190877T>C, NC_000001.10:g.13036597A>G, NT_187517.1:g.168526T>C, NM_001099850.2:c.663A>G, NM_001099850.1:c.663A>G, NM_001291370.1:c.663A>G, NM_001100631.1:c.669A>G, NM_001100631.2:c.663A>G, NP_001093320.2:p.Ile221Met

Select item 148927694316.

rs1489276943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13226316 (GRCh38)
1:13035335 (GRCh37)
Canonical SPDI:: NC_000001.11:13226315:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000212/3 (TOMMO)
T=0.000342/48 (GnomAD)
T=0.000937/6 (1000Genomes)
A=0.002157/5 (KOREAN)
HGVS:: NC_000001.11:g.13226316C>T, NW_012132914.1:g.380656C>T, NW_015495298.1:g.192139C>T, NC_000001.10:g.13035335G>A, NT_187517.1:g.169784C>T

Select item 148921518117.

rs1489215181 [Homo sapiens]

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

Select item 148910605518.

rs1489106055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13005450 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:13005449:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.13005450G>A, NW_012132914.1:g.159790G>A, NW_015495298.1:g.1066G>A, NM_001099790.3:c.1266G>A, NM_001099790.5:c.1266G>A, NM_001099790.4:c.1266G>A, NM_001099790.2:c.1266G>A, NM_001099790.1:c.1266G>A, NM_001100631.2:c.1266G>A, NM_001100631.1:c.1272G>A, NM_001099850.1:c.1266G>A, NM_001099850.2:c.1266G>A, NM_001024659.1:c.1059G>A, NM_001013692.1:c.1272G>A

Select item 148903342219.

rs1489033422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:13224620 (GRCh38)
1:13037035 (GRCh37)
Canonical SPDI:: NC_000001.11:13224619:C:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.13224620C>G, NW_012132914.1:g.378960C>G, NW_015495298.1:g.190439C>G, NC_000001.10:g.13037035G>C, NT_187517.1:g.168088C>G

Select item 148888415520.

rs1488884155 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: NT_187517.1:17859 (GRCh38)
NT_187517.1:13139788 (GRCh37)
Canonical SPDI:: NT_187517.1:17857:TGT:T
Gene:: PRAMEF25 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NT_187517.1:g.17859_17860del, NC_000001.10:g.13139788_13139789del

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