SNP Links for Gene (Select 286140) - SNP

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Select item 14904945891.

rs1490494589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:38600179 (GRCh38)
8:38457697 (GRCh37)
Canonical SPDI:: NC_000008.11:38600178:T:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38600179T>G, NC_000008.10:g.38457697T>G, NR_003129.1:n.1079A>C

Select item 14889406502.

rs1488940650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38601375 (GRCh38)
8:38458893 (GRCh37)
Canonical SPDI:: NC_000008.11:38601374:A:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.38601375A>G, NC_000008.10:g.38458893A>G

Select item 14886762013.

rs1488676201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:38602342 (GRCh38)
8:38459860 (GRCh37)
Canonical SPDI:: NC_000008.11:38602341:T:C
Gene:: RNF5P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38602342T>C, NC_000008.10:g.38459860T>C

Select item 14880949784.

rs1488094978 [Homo sapiens]

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

Select item 14880762675.

rs1488076267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38600883 (GRCh38)
8:38458401 (GRCh37)
Canonical SPDI:: NC_000008.11:38600882:G:A
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000008.11:g.38600883G>A, NC_000008.10:g.38458401G>A, NR_003129.1:n.375C>T

Select item 14858653296.

rs1485865329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:38602330 (GRCh38)
8:38459848 (GRCh37)
Canonical SPDI:: NC_000008.11:38602329:T:C,NC_000008.11:38602329:T:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.38602330T>C, NC_000008.11:g.38602330T>G, NC_000008.10:g.38459848T>C, NC_000008.10:g.38459848T>G

Select item 14858279627.

rs1485827962 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:38599716 (GRCh38)
8:38457235 (GRCh37)
Canonical SPDI:: NC_000008.11:38599716::A
Gene:: RNF5P1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38599716_38599717insA, NC_000008.10:g.38457234_38457235insA

Select item 14855851818.

rs1485585181 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:38601117 (GRCh38)
8:38458635 (GRCh37)
Canonical SPDI:: NC_000008.11:38601112:ATATAT:ATAT
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38601113AT[2], NC_000008.10:g.38458631AT[2], NR_003129.1:n.140AT[2]

Select item 14800932329.

rs1480093232 has merged into rs1366726008 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 8:38599907 (GRCh38)
8:38457425 (GRCh37)
Canonical SPDI:: NC_000008.11:38599906:GGGG:GGG,NC_000008.11:38599906:GGGG:GGGGG
Gene:: RNF5P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.38599910del, NC_000008.11:g.38599910dup, NC_000008.10:g.38457428del, NC_000008.10:g.38457428dup

Select item 147842085610.

rs1478420856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38601505 (GRCh38)
8:38459023 (GRCh37)
Canonical SPDI:: NC_000008.11:38601504:G:A
Gene:: RNF5P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38601505G>A, NC_000008.10:g.38459023G>A

Select item 147815533911.

rs1478155339 has merged into rs10646156 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:38602400 (GRCh38)
8:38459918 (GRCh37)
Canonical SPDI:: NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38602391:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RNF5P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.38602400_38602408del, NC_000008.11:g.38602404_38602408del, NC_000008.11:g.38602406_38602408del, NC_000008.11:g.38602407_38602408del, NC_000008.11:g.38602408del, NC_000008.11:g.38602408dup, NC_000008.11:g.38602407_38602408dup, NC_000008.11:g.38602406_38602408dup, NC_000008.11:g.38602405_38602408dup, NC_000008.11:g.38602404_38602408dup, NC_000008.11:g.38602403_38602408dup, NC_000008.11:g.38602402_38602408dup, NC_000008.11:g.38602401_38602408dup, NC_000008.11:g.38602399_38602408dup, NC_000008.11:g.38602408_38602409insTTTTTTTTTTTTTTTTTT, NC_000008.10:g.38459918_38459926del, NC_000008.10:g.38459922_38459926del, NC_000008.10:g.38459924_38459926del, NC_000008.10:g.38459925_38459926del, NC_000008.10:g.38459926del, NC_000008.10:g.38459926dup, NC_000008.10:g.38459925_38459926dup, NC_000008.10:g.38459924_38459926dup, NC_000008.10:g.38459923_38459926dup, NC_000008.10:g.38459922_38459926dup, NC_000008.10:g.38459921_38459926dup, NC_000008.10:g.38459920_38459926dup, NC_000008.10:g.38459919_38459926dup, NC_000008.10:g.38459917_38459926dup, NC_000008.10:g.38459926_38459927insTTTTTTTTTTTTTTTTTT

Select item 147751554512.

rs1477515545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38600824 (GRCh38)
8:38458342 (GRCh37)
Canonical SPDI:: NC_000008.11:38600823:C:T
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000008.11:g.38600824C>T, NC_000008.10:g.38458342C>T, NR_003129.1:n.434G>A

Select item 147534998713.

rs1475349987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38601117 (GRCh38)
8:38458635 (GRCh37)
Canonical SPDI:: NC_000008.11:38601116:A:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.38601117A>G, NC_000008.10:g.38458635A>G, NR_003129.1:n.141T>C

Select item 147432993214.

rs1474329932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38600340 (GRCh38)
8:38457858 (GRCh37)
Canonical SPDI:: NC_000008.11:38600339:A:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.38600340A>G, NC_000008.10:g.38457858A>G, NR_003129.1:n.918T>C

Select item 147421974015.

rs1474219740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:38603153 (GRCh38)
8:38460671 (GRCh37)
Canonical SPDI:: NC_000008.11:38603152:G:C
Gene:: RNF5P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.38603153G>C, NC_000008.10:g.38460671G>C

Select item 147374291416.

rs1473742914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:38602620 (GRCh38)
8:38460138 (GRCh37)
Canonical SPDI:: NC_000008.11:38602619:A:C
Gene:: RNF5P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.38602620A>C, NC_000008.10:g.38460138A>C

Select item 147189333217.

rs1471893332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:38599816 (GRCh38)
8:38457334 (GRCh37)
Canonical SPDI:: NC_000008.11:38599815:T:A
Gene:: RNF5P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38599816T>A, NC_000008.10:g.38457334T>A

Select item 147124745018.

rs1471247450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:38601628 (GRCh38)
8:38459146 (GRCh37)
Canonical SPDI:: NC_000008.11:38601627:T:G
Gene:: RNF5P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38601628T>G, NC_000008.10:g.38459146T>G

Select item 146727628619.

rs1467276286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38599790 (GRCh38)
8:38457308 (GRCh37)
Canonical SPDI:: NC_000008.11:38599789:C:T
Gene:: RNF5P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.38599790C>T, NC_000008.10:g.38457308C>T

Select item 146495250920.

rs1464952509 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGATGG>- [Show Flanks]
Chromosome:: 8:38602101 (GRCh38)
8:38459619 (GRCh37)
Canonical SPDI:: NC_000008.11:38602098:GGAGGATGG:GG
Gene:: RNF5P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.38602101_38602107del, NC_000008.10:g.38459619_38459625del

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