SNP Links for Gene (Select 6730) - SNP

Links from Gene

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Select item 14915769541.

rs1491576954 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:76038365 (GRCh38)
17:74034446 (GRCh37)
Canonical SPDI:: NC_000017.11:76038364:CT:
Gene:: SRP68 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.76038365_76038366del, NC_000017.10:g.74034446_74034447del

Select item 14915482862.

rs1491548286 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:76058156 (GRCh38)
17:74054237 (GRCh37)
Canonical SPDI:: NC_000017.11:76058155:AT:
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000245/28 (GnomAD)
HGVS:: NC_000017.11:g.76058156_76058157del, NC_000017.10:g.74054237_74054238del

Select item 14915337313.

rs1491533731 has merged into rs59638317 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 17:76063700 (GRCh38)
17:74059781 (GRCh37)
Canonical SPDI:: NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:76063687:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000017.11:g.76063700_76063705del, NC_000017.11:g.76063703_76063705del, NC_000017.11:g.76063704_76063705del, NC_000017.11:g.76063705del, NC_000017.11:g.76063705dup, NC_000017.11:g.76063704_76063705dup, NC_000017.11:g.76063703_76063705dup, NC_000017.10:g.74059781_74059786del, NC_000017.10:g.74059784_74059786del, NC_000017.10:g.74059785_74059786del, NC_000017.10:g.74059786del, NC_000017.10:g.74059786dup, NC_000017.10:g.74059785_74059786dup, NC_000017.10:g.74059784_74059786dup

Select item 14915302824.

rs1491530282 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 17:76058156 (GRCh38)
17:74054238 (GRCh37)
Canonical SPDI:: NC_000017.11:76058156::AT
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.001379/20 (ALFA)
AT=0.001049/138 (GnomAD)
HGVS:: NC_000017.11:g.76058156_76058157insAT, NC_000017.10:g.74054237_74054238insAT

Select item 14915044635.

rs1491504463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACAC [Show Flanks]
Chromosome:: 17:76070849 (GRCh38)
17:74066931 (GRCh37)
Canonical SPDI:: NC_000017.11:76070849:GCACACACAC:GCACACACACGCACACACAC
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCACACACACGCACACACAC=0./0 (ALFA)
GCACACACAC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76070850_76070859dup, NC_000017.10:g.74066931_74066940dup

Select item 14915016016.

rs1491501601 has merged into rs200522360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 17:76062738 (GRCh38)
17:74058819 (GRCh37)
Canonical SPDI:: NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:76062729:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SRP68 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.76062730TA[4], NC_000017.11:g.76062730TA[5], NC_000017.11:g.76062730TA[6], NC_000017.11:g.76062730TA[7], NC_000017.11:g.76062730TA[8], NC_000017.11:g.76062730TA[9], NC_000017.11:g.76062730TA[10], NC_000017.11:g.76062730TA[11], NC_000017.11:g.76062730TA[12], NC_000017.11:g.76062730TA[13], NC_000017.11:g.76062730TA[14], NC_000017.11:g.76062730TA[15], NC_000017.11:g.76062730TA[16], NC_000017.11:g.76062730TA[17], NC_000017.11:g.76062730TA[19], NC_000017.11:g.76062730TA[20], NC_000017.11:g.76062730TA[21], NC_000017.11:g.76062730TA[22], NC_000017.11:g.76062730TA[23], NC_000017.11:g.76062730TA[24], NC_000017.11:g.76062730TA[25], NC_000017.10:g.74058811TA[4], NC_000017.10:g.74058811TA[5], NC_000017.10:g.74058811TA[6], NC_000017.10:g.74058811TA[7], NC_000017.10:g.74058811TA[8], NC_000017.10:g.74058811TA[9], NC_000017.10:g.74058811TA[10], NC_000017.10:g.74058811TA[11], NC_000017.10:g.74058811TA[12], NC_000017.10:g.74058811TA[13], NC_000017.10:g.74058811TA[14], NC_000017.10:g.74058811TA[15], NC_000017.10:g.74058811TA[16], NC_000017.10:g.74058811TA[17], NC_000017.10:g.74058811TA[19], NC_000017.10:g.74058811TA[20], NC_000017.10:g.74058811TA[21], NC_000017.10:g.74058811TA[22], NC_000017.10:g.74058811TA[23], NC_000017.10:g.74058811TA[24], NC_000017.10:g.74058811TA[25]

Select item 14914948627.

rs1491494862 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:76062636 (GRCh38)
17:74058717 (GRCh37)
Canonical SPDI:: NC_000017.11:76062635:TT:
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.76062636_76062637del, NC_000017.10:g.74058717_74058718del

Select item 14914761018.

rs1491476101 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:76070244 (GRCh38)
17:74066325 (GRCh37)
Canonical SPDI:: NC_000017.11:76070243:GC:
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00137/23 (TOMMO)
HGVS:: NC_000017.11:g.76070244_76070245del, NC_000017.10:g.74066325_74066326del

Select item 14914308269.

rs1491430826 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:76070849 (GRCh38)
17:74066930 (GRCh37)
Canonical SPDI:: NC_000017.11:76070848:TG:
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000184/21 (GnomAD)
HGVS:: NC_000017.11:g.76070849_76070850del, NC_000017.10:g.74066930_74066931del

Select item 149140243410.

rs1491402434 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:76070850 (GRCh38)
17:74066931 (GRCh37)
Canonical SPDI:: NC_000017.11:76070849:GC:
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00012/2 (ALFA)
-=0.00014/9 (GnomAD)
HGVS:: NC_000017.11:g.76070850_76070851del, NC_000017.10:g.74066931_74066932del

Select item 149139708811.

rs1491397088 has merged into rs1199160459 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAAA [Show Flanks]
Chromosome:: 17:76062766 (GRCh38)
17:74058847 (GRCh37)
Canonical SPDI:: NC_000017.11:76062764:AAAA:A,NC_000017.11:76062764:AAAA:AA,NC_000017.11:76062764:AAAA:AAA,NC_000017.11:76062764:AAAA:AAAAAA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00021/6 (TOMMO)
HGVS:: NC_000017.11:g.76062766_76062768del, NC_000017.11:g.76062767_76062768del, NC_000017.11:g.76062768del, NC_000017.11:g.76062767_76062768dup, NC_000017.10:g.74058847_74058849del, NC_000017.10:g.74058848_74058849del, NC_000017.10:g.74058849del, NC_000017.10:g.74058848_74058849dup

Select item 149137083612.

rs1491370836 has merged into rs11338515 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:76065446 (GRCh38)
17:74061527 (GRCh37)
Canonical SPDI:: NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:76065437:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0885/51 (NorthernSweden)
-=0.4085/2046 (1000Genomes)
HGVS:: NC_000017.11:g.76065446_76065459del, NC_000017.11:g.76065449_76065459del, NC_000017.11:g.76065450_76065459del, NC_000017.11:g.76065454_76065459del, NC_000017.11:g.76065455_76065459del, NC_000017.11:g.76065456_76065459del, NC_000017.11:g.76065457_76065459del, NC_000017.11:g.76065458_76065459del, NC_000017.11:g.76065459del, NC_000017.11:g.76065459dup, NC_000017.11:g.76065458_76065459dup, NC_000017.11:g.76065457_76065459dup, NC_000017.10:g.74061527_74061540del, NC_000017.10:g.74061530_74061540del, NC_000017.10:g.74061531_74061540del, NC_000017.10:g.74061535_74061540del, NC_000017.10:g.74061536_74061540del, NC_000017.10:g.74061537_74061540del, NC_000017.10:g.74061538_74061540del, NC_000017.10:g.74061539_74061540del, NC_000017.10:g.74061540del, NC_000017.10:g.74061540dup, NC_000017.10:g.74061539_74061540dup, NC_000017.10:g.74061538_74061540dup

Select item 149130560713.

rs1491305607 has merged into rs1414236389 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>-,CAAACAAA [Show Flanks]
Chromosome:: 17:76070257 (GRCh38)
17:74066338 (GRCh37)
Canonical SPDI:: NC_000017.11:76070244:CAAACAAACAAACAAA:CAAACAAACAAA,NC_000017.11:76070244:CAAACAAACAAACAAA:CAAACAAACAAACAAACAAA
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAACAAACAAACAAACAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.76070245CAAA[3], NC_000017.11:g.76070245CAAA[5], NC_000017.10:g.74066326CAAA[3], NC_000017.10:g.74066326CAAA[5]

Select item 149125252314.

rs1491252523 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 17:76062572 (GRCh38)
17:74058654 (GRCh37)
Canonical SPDI:: NC_000017.11:76062572:ATATA:ATATATA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATA=0.00034/4 (ALFA)
HGVS:: NC_000017.11:g.76062574TA[3], NC_000017.10:g.74058655TA[3]

Select item 149124078915.

rs1491240789 has merged into rs148525020 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA [Show Flanks]
Chromosome:: 17:76069026 (GRCh38)
17:74065107 (GRCh37)
Canonical SPDI:: NC_000017.11:76069012:ATATATATATATATA:ATATATATATATA,NC_000017.11:76069012:ATATATATATATATA:ATATATATATATATATA,NC_000017.11:76069012:ATATATATATATATA:ATATATATATATATATATA,NC_000017.11:76069012:ATATATATATATATA:ATATATATATATATATATATA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATA=0./0 (ALFA)
AT=0.125/5 (GENOME_DK)
AT=0.2472/1238 (1000Genomes)
AT=0.33833/203 (NorthernSweden)
HGVS:: NC_000017.11:g.76069014TA[6], NC_000017.11:g.76069014TA[8], NC_000017.11:g.76069014TA[9], NC_000017.11:g.76069014TA[10], NC_000017.10:g.74065095TA[6], NC_000017.10:g.74065095TA[8], NC_000017.10:g.74065095TA[9], NC_000017.10:g.74065095TA[10]

Select item 149119139516.

rs1491191395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATATATATATATATA [Show Flanks]
Chromosome:: 17:76062730 (GRCh38)
17:74058812 (GRCh37)
Canonical SPDI:: NC_000017.11:76062730:ATATATATATATATA:ATATATATATATATAAAATATATATATATATA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATATATAAAATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.76062731_76062745AT[7]A[4]TA[7], NC_000017.10:g.74058812_74058826AT[7]A[4]TA[7]

Select item 149114818617.

rs1491148186 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAATATA [Show Flanks]
Chromosome:: 17:76062636 (GRCh38)
17:74058718 (GRCh37)
Canonical SPDI:: NC_000017.11:76062636:TATATAATATA:TATATAATATATAATATA
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAATATATAATATA=0./0 (ALFA)
TATATAA=0.00112/63 (GnomAD)
TATATAA=0.00365/60 (TOMMO)
HGVS:: NC_000017.11:g.76062641_76062647dup, NC_000017.10:g.74058722_74058728dup

Select item 149112466718.

rs1491124667 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:76072413 (GRCh38)
17:74068494 (GRCh37)
Canonical SPDI:: NC_000017.11:76072412:TA:
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.01502/160 (GoESP)
HGVS:: NC_000017.11:g.76072413_76072414del, NC_000017.10:g.74068494_74068495del, NM_014230.4:c.78_79del, NM_014230.3:c.78_79del, NR_048541.2:n.104_105del, NR_048541.1:n.113_114del, NM_001260502.2:c.78_79del, NM_001260502.1:c.78_79del, NP_055045.2:p.Ser27fs, NP_001247431.1:p.Ser27fs

Select item 149112081419.

rs1491120814 has merged into rs398031638 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 17:76070881 (GRCh38)
17:74066962 (GRCh37)
Canonical SPDI:: NC_000017.11:76070879:AAA:A,NC_000017.11:76070879:AAA:AA,NC_000017.11:76070879:AAA:AAAA
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.76070881_76070882del, NC_000017.11:g.76070882del, NC_000017.11:g.76070882dup, NC_000017.10:g.74066962_74066963del, NC_000017.10:g.74066963del, NC_000017.10:g.74066963dup

Select item 149109406420.

rs1491094064 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:76062572 (GRCh38)
17:74058653 (GRCh37)
Canonical SPDI:: NC_000017.11:76062571:AA:
Gene:: SRP68 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.76062572_76062573del, NC_000017.10:g.74058653_74058654del

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