SNP Links for Gene (Select 6201) - SNP

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Select item 14910647741.

rs1491064774 has merged into rs375345004 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:3574855 (GRCh38)
2:3622445 (GRCh37)
Canonical SPDI:: NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3574843:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
T=0.375/3 (KOREAN)
HGVS:: NC_000002.12:g.3574855_3574862del, NC_000002.12:g.3574856_3574862del, NC_000002.12:g.3574857_3574862del, NC_000002.12:g.3574858_3574862del, NC_000002.12:g.3574860_3574862del, NC_000002.12:g.3574861_3574862del, NC_000002.12:g.3574862del, NC_000002.12:g.3574862dup, NC_000002.12:g.3574861_3574862dup, NC_000002.12:g.3574860_3574862dup, NC_000002.12:g.3574859_3574862dup, NC_000002.12:g.3574858_3574862dup, NC_000002.12:g.3574855_3574862dup, NC_000002.11:g.3622445_3622452del, NC_000002.11:g.3622446_3622452del, NC_000002.11:g.3622447_3622452del, NC_000002.11:g.3622448_3622452del, NC_000002.11:g.3622450_3622452del, NC_000002.11:g.3622451_3622452del, NC_000002.11:g.3622452del, NC_000002.11:g.3622452dup, NC_000002.11:g.3622451_3622452dup, NC_000002.11:g.3622450_3622452dup, NC_000002.11:g.3622449_3622452dup, NC_000002.11:g.3622448_3622452dup, NC_000002.11:g.3622445_3622452dup, NG_011744.1:g.4593_4600del, NG_011744.1:g.4594_4600del, NG_011744.1:g.4595_4600del, NG_011744.1:g.4596_4600del, NG_011744.1:g.4598_4600del, NG_011744.1:g.4599_4600del, NG_011744.1:g.4600del, NG_011744.1:g.4600dup, NG_011744.1:g.4599_4600dup, NG_011744.1:g.4598_4600dup, NG_011744.1:g.4597_4600dup, NG_011744.1:g.4596_4600dup, NG_011744.1:g.4593_4600dup, XR_007086196.1:n.259_266del, XR_007086196.1:n.260_266del, XR_007086196.1:n.261_266del, XR_007086196.1:n.262_266del, XR_007086196.1:n.264_266del, XR_007086196.1:n.265_266del, XR_007086196.1:n.266del, XR_007086196.1:n.266dup, XR_007086196.1:n.265_266dup, XR_007086196.1:n.264_266dup, XR_007086196.1:n.263_266dup, XR_007086196.1:n.262_266dup, XR_007086196.1:n.259_266dup

Select item 14909775302.

rs1490977530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3578786 (GRCh38)
2:3626376 (GRCh37)
Canonical SPDI:: NC_000002.12:3578785:A:G
Gene:: RPS7 (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_000002.12:g.3578786A>G, NC_000002.11:g.3626376A>G, NG_011744.1:g.8524A>G

Select item 14907720603.

rs1490772060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:3580765 (GRCh38)
2:3628355 (GRCh37)
Canonical SPDI:: NC_000002.12:3580764:T:G
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3580765T>G, NC_000002.11:g.3628355T>G, NG_011744.1:g.10503T>G

Select item 14903867154.

rs1490386715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3578721 (GRCh38)
2:3626311 (GRCh37)
Canonical SPDI:: NC_000002.12:3578720:C:T
Gene:: RPS7 (Varview)
Functional Consequence:: intron_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_000002.12:g.3578721C>T, NC_000002.11:g.3626311C>T, NG_011744.1:g.8459C>T

Select item 14899222495.

rs1489922249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:3578365 (GRCh38)
2:3625955 (GRCh37)
Canonical SPDI:: NC_000002.12:3578364:A:T
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3578365A>T, NC_000002.11:g.3625955A>T, NG_011744.1:g.8103A>T

Select item 14897725776.

rs1489772577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3577365 (GRCh38)
2:3624955 (GRCh37)
Canonical SPDI:: NC_000002.12:3577364:A:G
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3577365A>G, NC_000002.11:g.3624955A>G, NG_011744.1:g.7103A>G

Select item 14897704657.

rs1489770465 has merged into rs1382298319 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 2:3581159 (GRCh38)
2:3628749 (GRCh37)
Canonical SPDI:: NC_000002.12:3581155:TTTTTTT:TTT,NC_000002.12:3581155:TTTTTTT:TTTTT,NC_000002.12:3581155:TTTTTTT:TTTTTT,NC_000002.12:3581155:TTTTTTT:TTTTTTTT
Gene:: RPS7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.00004/1 (TOMMO)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000002.12:g.3581159_3581162del, NC_000002.12:g.3581161_3581162del, NC_000002.12:g.3581162del, NC_000002.12:g.3581162dup, NC_000002.11:g.3628749_3628752del, NC_000002.11:g.3628751_3628752del, NC_000002.11:g.3628752del, NC_000002.11:g.3628752dup, NG_011744.1:g.10897_10900del, NG_011744.1:g.10899_10900del, NG_011744.1:g.10900del, NG_011744.1:g.10900dup

Select item 14897044478.

rs1489704447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:3579932 (GRCh38)
2:3627522 (GRCh37)
Canonical SPDI:: NC_000002.12:3579931:G:C
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.3579932G>C, NC_000002.11:g.3627522G>C, NG_011744.1:g.9670G>C

Select item 14894153769.

rs1489415376 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:3576461 (GRCh38)
2:3624051 (GRCh37)
Canonical SPDI:: NC_000002.12:3576457:ACACA:ACA
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.3576459CA[1], NC_000002.11:g.3624049CA[1], NG_011744.1:g.6197CA[1]

Select item 148936393810.

rs1489363938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3577314 (GRCh38)
2:3624904 (GRCh37)
Canonical SPDI:: NC_000002.12:3577313:C:T
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.3577314C>T, NC_000002.11:g.3624904C>T, NG_011744.1:g.7052C>T

Select item 148923621011.

rs1489236210 [Homo sapiens]

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

Select item 148921455912.

rs1489214559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:3574846 (GRCh38)
2:3622436 (GRCh37)
Canonical SPDI:: NC_000002.12:3574845:T:G
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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_000002.12:g.3574846T>G, NC_000002.11:g.3622436T>G, NG_011744.1:g.4584T>G, XR_007086196.1:n.264A>C

Select item 148921202213.

rs1489212022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3576180 (GRCh38)
2:3623770 (GRCh37)
Canonical SPDI:: NC_000002.12:3576179:A:G
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00017/45 (TOPMED)
G=0.000214/30 (GnomAD)
HGVS:: NC_000002.12:g.3576180A>G, NC_000002.11:g.3623770A>G, NG_011744.1:g.5918A>G

Select item 148888795714.

rs1488887957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3577120 (GRCh38)
2:3624710 (GRCh37)
Canonical SPDI:: NC_000002.12:3577119:G:A
Gene:: RPS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3577120G>A, NC_000002.11:g.3624710G>A, NG_011744.1:g.6858G>A

Select item 148882504215.

rs1488825042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:3575403 (GRCh38)
2:3622993 (GRCh37)
Canonical SPDI:: NC_000002.12:3575402:A:C,NC_000002.12:3575402:A:G
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3575403A>C, NC_000002.12:g.3575403A>G, NC_000002.11:g.3622993A>C, NC_000002.11:g.3622993A>G, NG_011744.1:g.5141A>C, NG_011744.1:g.5141A>G

Select item 148827519516.

rs1488275195 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:3573493 (GRCh38)
2:3621084 (GRCh37)
Canonical SPDI:: NC_000002.12:3573493:CC:CCC
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3573495dup, NC_000002.11:g.3621085dup, NG_011744.1:g.3233dup

Select item 148823497917.

rs1488234979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3574428 (GRCh38)
2:3622018 (GRCh37)
Canonical SPDI:: NC_000002.12:3574427:C:G
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.3574428C>G, NC_000002.11:g.3622018C>G, NG_011744.1:g.4166C>G, XR_007086196.1:n.682G>C

Select item 148808558618.

rs1488085586 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:3573298 (GRCh38)
2:3620888 (GRCh37)
Canonical SPDI:: NC_000002.12:3573296:AGA:A
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3573298_3573299del, NC_000002.11:g.3620888_3620889del, NG_011744.1:g.3036_3037del

Select item 148803592119.

rs1488035921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3573996 (GRCh38)
2:3621586 (GRCh37)
Canonical SPDI:: NC_000002.12:3573995:G:A
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3573996G>A, NC_000002.11:g.3621586G>A, NG_011744.1:g.3734G>A

Select item 148779396120.

rs1487793961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3574939 (GRCh38)
2:3622529 (GRCh37)
Canonical SPDI:: NC_000002.12:3574938:T:C
Gene:: RPS7 (Varview), LOC124907726 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.3574939T>C, NC_000002.11:g.3622529T>C, NG_011744.1:g.4677T>C, XR_007086196.1:n.171A>G

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