SNP Links for Protein (Select 1034604117) - SNP

Links from Protein

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Select item 14894775011.

rs1489477501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:46433298 (GRCh38)
18:44013261 (GRCh37)
Canonical SPDI:: NC_000018.10:46433297:C:G,NC_000018.10:46433297:C:T
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.46433298C>G, NC_000018.10:g.46433298C>T, NC_000018.9:g.44013261C>G, NC_000018.9:g.44013261C>T, XM_011526016.4:c.170C>G, XM_011526016.4:c.170C>T, XM_011526016.3:c.170C>G, XM_011526016.3:c.170C>T, XM_011526016.2:c.170C>G, XM_011526016.2:c.170C>T, XM_011526016.1:c.170C>G, XM_011526016.1:c.170C>T, NM_152470.3:c.170C>G, NM_152470.3:c.170C>T, NM_152470.2:c.170C>G, NM_152470.2:c.170C>T, XM_017025788.3:c.170C>G, XM_017025788.3:c.170C>T, XM_017025788.2:c.170C>G, XM_017025788.2:c.170C>T, XM_017025788.1:c.170C>G, XM_017025788.1:c.170C>T, XP_011524318.1:p.Pro57Arg, XP_011524318.1:p.Pro57Leu, NP_689683.2:p.Pro57Arg, NP_689683.2:p.Pro57Leu, XP_016881277.1:p.Pro57Arg, XP_016881277.1:p.Pro57Leu

Select item 14802558902.

rs1480255890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46433324 (GRCh38)
18:44013287 (GRCh37)
Canonical SPDI:: NC_000018.10:46433323:G:A
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46433324G>A, NC_000018.9:g.44013287G>A, XM_011526016.4:c.196G>A, XM_011526016.3:c.196G>A, XM_011526016.2:c.196G>A, XM_011526016.1:c.196G>A, NM_152470.3:c.196G>A, NM_152470.2:c.196G>A, XM_017025788.3:c.196G>A, XM_017025788.2:c.196G>A, XM_017025788.1:c.196G>A, XP_011524318.1:p.Ala66Thr, NP_689683.2:p.Ala66Thr, XP_016881277.1:p.Ala66Thr

Select item 14787626263.

rs1478762626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:46439154 (GRCh38)
18:44019117 (GRCh37)
Canonical SPDI:: NC_000018.10:46439153:T:G
Gene:: RNF165 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.46439154T>G, NC_000018.9:g.44019117T>G, XM_017025788.3:c.561T>G, XM_017025788.2:c.561T>G, XM_017025788.1:c.561T>G, XM_024451191.2:c.-133T>G, XM_024451191.1:c.-133T>G

Select item 14709115874.

rs1470911587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:46435349 (GRCh38)
18:44015312 (GRCh37)
Canonical SPDI:: NC_000018.10:46435348:C:A,NC_000018.10:46435348:C:T
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.46435349C>A, NC_000018.10:g.46435349C>T, NC_000018.9:g.44015312C>A, NC_000018.9:g.44015312C>T, XM_011526016.4:c.438C>A, XM_011526016.4:c.438C>T, XM_011526016.3:c.438C>A, XM_011526016.3:c.438C>T, XM_011526016.2:c.438C>A, XM_011526016.2:c.438C>T, XM_011526016.1:c.438C>A, XM_011526016.1:c.438C>T, NM_152470.3:c.438C>A, NM_152470.3:c.438C>T, NM_152470.2:c.438C>A, NM_152470.2:c.438C>T, XM_017025788.3:c.438C>A, XM_017025788.3:c.438C>T, XM_017025788.2:c.438C>A, XM_017025788.2:c.438C>T, XM_017025788.1:c.438C>A, XM_017025788.1:c.438C>T

Select item 14680224305.

rs1468022430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:46433276 (GRCh38)
18:44013239 (GRCh37)
Canonical SPDI:: NC_000018.10:46433275:C:T
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.46433276C>T, NC_000018.9:g.44013239C>T, XM_011526016.4:c.148C>T, XM_011526016.3:c.148C>T, XM_011526016.2:c.148C>T, XM_011526016.1:c.148C>T, NM_152470.3:c.148C>T, NM_152470.2:c.148C>T, XM_017025788.3:c.148C>T, XM_017025788.2:c.148C>T, XM_017025788.1:c.148C>T, XP_011524318.1:p.Pro50Ser, NP_689683.2:p.Pro50Ser, XP_016881277.1:p.Pro50Ser

Select item 14650375156.

rs1465037515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:46433398 (GRCh38)
18:44013361 (GRCh37)
Canonical SPDI:: NC_000018.10:46433397:C:G
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.46433398C>G, NC_000018.9:g.44013361C>G, XM_011526016.4:c.270C>G, XM_011526016.3:c.270C>G, XM_011526016.2:c.270C>G, XM_011526016.1:c.270C>G, NM_152470.3:c.270C>G, NM_152470.2:c.270C>G, XM_017025788.3:c.270C>G, XM_017025788.2:c.270C>G, XM_017025788.1:c.270C>G, XP_011524318.1:p.Phe90Leu, NP_689683.2:p.Phe90Leu, XP_016881277.1:p.Phe90Leu

Select item 14642706357.

rs1464270635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:46334284 (GRCh38)
18:43914247 (GRCh37)
Canonical SPDI:: NC_000018.10:46334283:G:C,NC_000018.10:46334283:G:T
Gene:: RNF165 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.46334284G>C, NC_000018.10:g.46334284G>T, NC_000018.9:g.43914247G>C, NC_000018.9:g.43914247G>T, XM_011526016.4:c.10G>C, XM_011526016.4:c.10G>T, XM_011526016.3:c.10G>C, XM_011526016.3:c.10G>T, XM_011526016.2:c.10G>C, XM_011526016.2:c.10G>T, XM_011526016.1:c.10G>C, XM_011526016.1:c.10G>T, NM_152470.3:c.10G>C, NM_152470.3:c.10G>T, NM_152470.2:c.10G>C, NM_152470.2:c.10G>T, XM_017025788.3:c.10G>C, XM_017025788.3:c.10G>T, XM_017025788.2:c.10G>C, XM_017025788.2:c.10G>T, XM_017025788.1:c.10G>C, XM_017025788.1:c.10G>T, NR_046357.2:n.267G>C, NR_046357.2:n.267G>T, NR_046357.1:n.61G>C, NR_046357.1:n.61G>T, NM_001256758.1:c.-143G>C, NM_001256758.1:c.-143G>T, XP_011524318.1:p.Val4Leu, XP_011524318.1:p.Val4Phe, NP_689683.2:p.Val4Leu, NP_689683.2:p.Val4Phe, XP_016881277.1:p.Val4Leu, XP_016881277.1:p.Val4Phe

Select item 14626755528.

rs1462675552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:46433256 (GRCh38)
18:44013219 (GRCh37)
Canonical SPDI:: NC_000018.10:46433255:C:A,NC_000018.10:46433255:C:G
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.46433256C>A, NC_000018.10:g.46433256C>G, NC_000018.9:g.44013219C>A, NC_000018.9:g.44013219C>G, XM_011526016.4:c.128C>A, XM_011526016.4:c.128C>G, XM_011526016.3:c.128C>A, XM_011526016.3:c.128C>G, XM_011526016.2:c.128C>A, XM_011526016.2:c.128C>G, XM_011526016.1:c.128C>A, XM_011526016.1:c.128C>G, NM_152470.3:c.128C>A, NM_152470.3:c.128C>G, NM_152470.2:c.128C>A, NM_152470.2:c.128C>G, XM_017025788.3:c.128C>A, XM_017025788.3:c.128C>G, XM_017025788.2:c.128C>A, XM_017025788.2:c.128C>G, XM_017025788.1:c.128C>A, XM_017025788.1:c.128C>G, XP_011524318.1:p.Pro43Gln, XP_011524318.1:p.Pro43Arg, NP_689683.2:p.Pro43Gln, NP_689683.2:p.Pro43Arg, XP_016881277.1:p.Pro43Gln, XP_016881277.1:p.Pro43Arg

Select item 14620496779.

rs1462049677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:46334324 (GRCh38)
18:43914287 (GRCh37)
Canonical SPDI:: NC_000018.10:46334323:T:G
Gene:: RNF165 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46334324T>G, NC_000018.9:g.43914287T>G, XM_011526016.4:c.50T>G, XM_011526016.3:c.50T>G, XM_011526016.2:c.50T>G, XM_011526016.1:c.50T>G, NM_152470.3:c.50T>G, NM_152470.2:c.50T>G, XM_017025788.3:c.50T>G, XM_017025788.2:c.50T>G, XM_017025788.1:c.50T>G, NR_046357.2:n.307T>G, NR_046357.1:n.101T>G, NM_001256758.1:c.-103T>G, XP_011524318.1:p.Val17Gly, NP_689683.2:p.Val17Gly, XP_016881277.1:p.Val17Gly

Select item 145610930610.

rs1456109306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGCCC [Show Flanks]
Chromosome:: 18:46433330 (GRCh38)
18:44013294 (GRCh37)
Canonical SPDI:: NC_000018.10:46433330:TGGCCC:TGGCCCTGGCCC
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,inframe_insertion
Validated:: by frequency
MAF:: TGGCCC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46433331_46433336dup, NC_000018.9:g.44013294_44013299dup, XM_011526016.4:c.203_208dup, XM_011526016.3:c.203_208dup, XM_011526016.2:c.203_208dup, XM_011526016.1:c.203_208dup, NM_152470.3:c.203_208dup, NM_152470.2:c.203_208dup, XM_017025788.3:c.203_208dup, XM_017025788.2:c.203_208dup, XM_017025788.1:c.203_208dup, XP_011524318.1:p.Pro70_Ala71insLeuAla, NP_689683.2:p.Pro70_Ala71insLeuAla, XP_016881277.1:p.Pro70_Ala71insLeuAla

Select item 145456460411.

rs1454564604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46435289 (GRCh38)
18:44015252 (GRCh37)
Canonical SPDI:: NC_000018.10:46435288:G:A
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.46435289G>A, NC_000018.9:g.44015252G>A, XM_011526016.4:c.378G>A, XM_011526016.3:c.378G>A, XM_011526016.2:c.378G>A, XM_011526016.1:c.378G>A, NM_152470.3:c.378G>A, NM_152470.2:c.378G>A, XM_017025788.3:c.378G>A, XM_017025788.2:c.378G>A, XM_017025788.1:c.378G>A

Select item 144765938012.

rs1447659380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46433311 (GRCh38)
18:44013274 (GRCh37)
Canonical SPDI:: NC_000018.10:46433310:G:A
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46433311G>A, NC_000018.9:g.44013274G>A, XM_011526016.4:c.183G>A, XM_011526016.3:c.183G>A, XM_011526016.2:c.183G>A, XM_011526016.1:c.183G>A, NM_152470.3:c.183G>A, NM_152470.2:c.183G>A, XM_017025788.3:c.183G>A, XM_017025788.2:c.183G>A, XM_017025788.1:c.183G>A

Select item 144653855413.

rs1446538554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:46433206 (GRCh38)
18:44013169 (GRCh37)
Canonical SPDI:: NC_000018.10:46433205:G:A,NC_000018.10:46433205:G:C
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.46433206G>A, NC_000018.10:g.46433206G>C, NC_000018.9:g.44013169G>A, NC_000018.9:g.44013169G>C, XM_011526016.4:c.78G>A, XM_011526016.4:c.78G>C, XM_011526016.3:c.78G>A, XM_011526016.3:c.78G>C, XM_011526016.2:c.78G>A, XM_011526016.2:c.78G>C, XM_011526016.1:c.78G>A, XM_011526016.1:c.78G>C, NM_152470.3:c.78G>A, NM_152470.3:c.78G>C, NM_152470.2:c.78G>A, NM_152470.2:c.78G>C, XM_017025788.3:c.78G>A, XM_017025788.3:c.78G>C, XM_017025788.2:c.78G>A, XM_017025788.2:c.78G>C, XM_017025788.1:c.78G>A, XM_017025788.1:c.78G>C, XP_011524318.1:p.Arg26Ser, NP_689683.2:p.Arg26Ser, XP_016881277.1:p.Arg26Ser

Select item 144637132414.

rs1446371324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46435396 (GRCh38)
18:44015359 (GRCh37)
Canonical SPDI:: NC_000018.10:46435395:G:A
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.46435396G>A, NC_000018.9:g.44015359G>A, XM_011526016.4:c.485G>A, XM_011526016.3:c.485G>A, XM_011526016.2:c.485G>A, XM_011526016.1:c.485G>A, NM_152470.3:c.485G>A, NM_152470.2:c.485G>A, XM_017025788.3:c.485G>A, XM_017025788.2:c.485G>A, XM_017025788.1:c.485G>A, XP_011524318.1:p.Trp162Ter, NP_689683.2:p.Trp162Ter, XP_016881277.1:p.Cys162Tyr

Select item 143359233215.

rs1433592332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:46433284 (GRCh38)
18:44013247 (GRCh37)
Canonical SPDI:: NC_000018.10:46433283:C:A,NC_000018.10:46433283:C:T
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00042/7 (TOMMO)
HGVS:: NC_000018.10:g.46433284C>A, NC_000018.10:g.46433284C>T, NC_000018.9:g.44013247C>A, NC_000018.9:g.44013247C>T, XM_011526016.4:c.156C>A, XM_011526016.4:c.156C>T, XM_011526016.3:c.156C>A, XM_011526016.3:c.156C>T, XM_011526016.2:c.156C>A, XM_011526016.2:c.156C>T, XM_011526016.1:c.156C>A, XM_011526016.1:c.156C>T, NM_152470.3:c.156C>A, NM_152470.3:c.156C>T, NM_152470.2:c.156C>A, NM_152470.2:c.156C>T, XM_017025788.3:c.156C>A, XM_017025788.3:c.156C>T, XM_017025788.2:c.156C>A, XM_017025788.2:c.156C>T, XM_017025788.1:c.156C>A, XM_017025788.1:c.156C>T, XP_011524318.1:p.Phe52Leu, NP_689683.2:p.Phe52Leu, XP_016881277.1:p.Phe52Leu

Select item 143237786716.

rs1432377867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:46433289 (GRCh38)
18:44013252 (GRCh37)
Canonical SPDI:: NC_000018.10:46433288:T:G
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46433289T>G, NC_000018.9:g.44013252T>G, XM_011526016.4:c.161T>G, XM_011526016.3:c.161T>G, XM_011526016.2:c.161T>G, XM_011526016.1:c.161T>G, NM_152470.3:c.161T>G, NM_152470.2:c.161T>G, XM_017025788.3:c.161T>G, XM_017025788.2:c.161T>G, XM_017025788.1:c.161T>G, XP_011524318.1:p.Leu54Arg, NP_689683.2:p.Leu54Arg, XP_016881277.1:p.Leu54Arg

Select item 143008165417.

rs1430081654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:46433454 (GRCh38)
18:44013417 (GRCh37)
Canonical SPDI:: NC_000018.10:46433453:T:C
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.46433454T>C, NC_000018.9:g.44013417T>C, XM_011526016.4:c.326T>C, XM_011526016.3:c.326T>C, XM_011526016.2:c.326T>C, XM_011526016.1:c.326T>C, NM_152470.3:c.326T>C, NM_152470.2:c.326T>C, XM_017025788.3:c.326T>C, XM_017025788.2:c.326T>C, XM_017025788.1:c.326T>C, XR_007066355.1:n.74A>G, XP_011524318.1:p.Leu109Pro, NP_689683.2:p.Leu109Pro, XP_016881277.1:p.Leu109Pro

Select item 142168300318.

rs1421683003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:46435370 (GRCh38)
18:44015333 (GRCh37)
Canonical SPDI:: NC_000018.10:46435369:C:G
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_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_000018.10:g.46435370C>G, NC_000018.9:g.44015333C>G, XM_011526016.4:c.459C>G, XM_011526016.3:c.459C>G, XM_011526016.2:c.459C>G, XM_011526016.1:c.459C>G, NM_152470.3:c.459C>G, NM_152470.2:c.459C>G, XM_017025788.3:c.459C>G, XM_017025788.2:c.459C>G, XM_017025788.1:c.459C>G

Select item 141286975819.

rs1412869758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:46435379 (GRCh38)
18:44015342 (GRCh37)
Canonical SPDI:: NC_000018.10:46435378:G:C
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.46435379G>C, NC_000018.9:g.44015342G>C, XM_011526016.4:c.468G>C, XM_011526016.3:c.468G>C, XM_011526016.2:c.468G>C, XM_011526016.1:c.468G>C, NM_152470.3:c.468G>C, NM_152470.2:c.468G>C, XM_017025788.3:c.468G>C, XM_017025788.2:c.468G>C, XM_017025788.1:c.468G>C, XP_011524318.1:p.Leu156Phe, NP_689683.2:p.Leu156Phe, XP_016881277.1:p.Leu156Phe

Select item 140338961220.

rs1403389612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:46435373 (GRCh38)
18:44015336 (GRCh37)
Canonical SPDI:: NC_000018.10:46435372:G:A
Gene:: RNF165 (Varview), LOC124904293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.46435373G>A, NC_000018.9:g.44015336G>A, XM_011526016.4:c.462G>A, XM_011526016.3:c.462G>A, XM_011526016.2:c.462G>A, XM_011526016.1:c.462G>A, NM_152470.3:c.462G>A, NM_152470.2:c.462G>A, XM_017025788.3:c.462G>A, XM_017025788.2:c.462G>A, XM_017025788.1:c.462G>A

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