SNP Links for Gene (Select 79005) - SNP

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Select item 14914487661.

rs1491448766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:151166143 (GRCh38)
1:151138620 (GRCh37)
Canonical SPDI:: NC_000001.11:151166143:A:AA
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151166144dup, NC_000001.10:g.151138620dup, NM_024041.4:c.-9dup, NM_024041.3:c.-9dup, NM_001204856.2:c.-163dup, NM_001204856.1:c.-163dup, NR_037937.2:n.1dup, NR_037937.1:n.123dup, NM_001002234.1:c.-163dup

Select item 14911314152.

rs1491131415 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:151166609 (GRCh38)
1:151139086 (GRCh37)
Canonical SPDI:: NC_000001.11:151166609::C
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.151166609_151166610insC, NC_000001.10:g.151139085_151139086insC

Select item 14910943493.

rs1491094349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:151166145 (GRCh38)
1:151138621 (GRCh37)
Canonical SPDI:: NC_000001.11:151166142:CACA:CA
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151166143CA[1], NC_000001.10:g.151138619CA[1], NM_001002234.1:c.-164CA[1]

Select item 14909218024.

rs1490921802 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 1:151169792 (GRCh38)
1:151142268 (GRCh37)
Canonical SPDI:: NC_000001.11:151169789:AGTAG:AG
Gene:: TMOD4 (Varview), SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151169792_151169794del, NC_000001.10:g.151142268_151142270del, NM_024041.4:c.*707_*709del, NM_024041.3:c.*707_*709del, NM_001204856.2:c.*707_*709del, NM_001204856.1:c.*707_*709del, NM_001204848.2:c.*707_*709del, NM_001204848.1:c.*707_*709del, NR_144937.2:n.1418_1420del, NR_144937.1:n.1438_1440del, NR_037937.2:n.1359_1361del, NR_037937.1:n.1481_1483del

Select item 14904799315.

rs1490479931 has merged into rs5777765 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151169251 (GRCh38)
1:151141727 (GRCh37)
Canonical SPDI:: NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151169240:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151169251_151169262del, NC_000001.11:g.151169253_151169262del, NC_000001.11:g.151169254_151169262del, NC_000001.11:g.151169257_151169262del, NC_000001.11:g.151169258_151169262del, NC_000001.11:g.151169260_151169262del, NC_000001.11:g.151169261_151169262del, NC_000001.11:g.151169262del, NC_000001.11:g.151169262dup, NC_000001.11:g.151169261_151169262dup, NC_000001.11:g.151169260_151169262dup, NC_000001.11:g.151169259_151169262dup, NC_000001.11:g.151169258_151169262dup, NC_000001.11:g.151169257_151169262dup, NC_000001.11:g.151169256_151169262dup, NC_000001.11:g.151169255_151169262dup, NC_000001.11:g.151169249_151169262dup, NC_000001.10:g.151141727_151141738del, NC_000001.10:g.151141729_151141738del, NC_000001.10:g.151141730_151141738del, NC_000001.10:g.151141733_151141738del, NC_000001.10:g.151141734_151141738del, NC_000001.10:g.151141736_151141738del, NC_000001.10:g.151141737_151141738del, NC_000001.10:g.151141738del, NC_000001.10:g.151141738dup, NC_000001.10:g.151141737_151141738dup, NC_000001.10:g.151141736_151141738dup, NC_000001.10:g.151141735_151141738dup, NC_000001.10:g.151141734_151141738dup, NC_000001.10:g.151141733_151141738dup, NC_000001.10:g.151141732_151141738dup, NC_000001.10:g.151141731_151141738dup, NC_000001.10:g.151141725_151141738dup, NM_024041.4:c.*166_*177del, NM_024041.4:c.*168_*177del, NM_024041.4:c.*169_*177del, NM_024041.4:c.*172_*177del, NM_024041.4:c.*173_*177del, NM_024041.4:c.*175_*177del, NM_024041.4:c.*176_*177del, NM_024041.4:c.*177del, NM_024041.4:c.*177dup, NM_024041.4:c.*176_*177dup, NM_024041.4:c.*175_*177dup, NM_024041.4:c.*174_*177dup, NM_024041.4:c.*173_*177dup, NM_024041.4:c.*172_*177dup, NM_024041.4:c.*171_*177dup, NM_024041.4:c.*170_*177dup, NM_024041.4:c.*164_*177dup, NM_024041.3:c.*166_*177del, NM_024041.3:c.*168_*177del, NM_024041.3:c.*169_*177del, NM_024041.3:c.*172_*177del, NM_024041.3:c.*173_*177del, NM_024041.3:c.*175_*177del, NM_024041.3:c.*176_*177del, NM_024041.3:c.*177del, NM_024041.3:c.*177dup, NM_024041.3:c.*176_*177dup, NM_024041.3:c.*175_*177dup, NM_024041.3:c.*174_*177dup, NM_024041.3:c.*173_*177dup, NM_024041.3:c.*172_*177dup, NM_024041.3:c.*171_*177dup, NM_024041.3:c.*170_*177dup, NM_024041.3:c.*164_*177dup, NM_001204856.2:c.*166_*177del, NM_001204856.2:c.*168_*177del, NM_001204856.2:c.*169_*177del, NM_001204856.2:c.*172_*177del, NM_001204856.2:c.*173_*177del, NM_001204856.2:c.*175_*177del, NM_001204856.2:c.*176_*177del, NM_001204856.2:c.*177del, NM_001204856.2:c.*177dup, NM_001204856.2:c.*176_*177dup, NM_001204856.2:c.*175_*177dup, NM_001204856.2:c.*174_*177dup, NM_001204856.2:c.*173_*177dup, NM_001204856.2:c.*172_*177dup, NM_001204856.2:c.*171_*177dup, NM_001204856.2:c.*170_*177dup, NM_001204856.2:c.*164_*177dup, NM_001204856.1:c.*166_*177del, NM_001204856.1:c.*168_*177del, NM_001204856.1:c.*169_*177del, NM_001204856.1:c.*172_*177del, NM_001204856.1:c.*173_*177del, NM_001204856.1:c.*175_*177del, NM_001204856.1:c.*176_*177del, NM_001204856.1:c.*177del, NM_001204856.1:c.*177dup, NM_001204856.1:c.*176_*177dup, NM_001204856.1:c.*175_*177dup, NM_001204856.1:c.*174_*177dup, NM_001204856.1:c.*173_*177dup, NM_001204856.1:c.*172_*177dup, NM_001204856.1:c.*171_*177dup, NM_001204856.1:c.*170_*177dup, NM_001204856.1:c.*164_*177dup, NM_001204848.2:c.*166_*177del, NM_001204848.2:c.*168_*177del, NM_001204848.2:c.*169_*177del, NM_001204848.2:c.*172_*177del, NM_001204848.2:c.*173_*177del, NM_001204848.2:c.*175_*177del, NM_001204848.2:c.*176_*177del, NM_001204848.2:c.*177del, NM_001204848.2:c.*177dup, NM_001204848.2:c.*176_*177dup, NM_001204848.2:c.*175_*177dup, NM_001204848.2:c.*174_*177dup, NM_001204848.2:c.*173_*177dup, NM_001204848.2:c.*172_*177dup, NM_001204848.2:c.*171_*177dup, NM_001204848.2:c.*170_*177dup, NM_001204848.2:c.*164_*177dup, NM_001204848.1:c.*166_*177del, NM_001204848.1:c.*168_*177del, NM_001204848.1:c.*169_*177del, NM_001204848.1:c.*172_*177del, NM_001204848.1:c.*173_*177del, NM_001204848.1:c.*175_*177del, NM_001204848.1:c.*176_*177del, NM_001204848.1:c.*177del, NM_001204848.1:c.*177dup, NM_001204848.1:c.*176_*177dup, NM_001204848.1:c.*175_*177dup, NM_001204848.1:c.*174_*177dup, NM_001204848.1:c.*173_*177dup, NM_001204848.1:c.*172_*177dup, NM_001204848.1:c.*171_*177dup, NM_001204848.1:c.*170_*177dup, NM_001204848.1:c.*164_*177dup, NR_144937.2:n.877_888del, NR_144937.2:n.879_888del, NR_144937.2:n.880_888del, NR_144937.2:n.883_888del, NR_144937.2:n.884_888del, NR_144937.2:n.886_888del, NR_144937.2:n.887_888del, NR_144937.2:n.888del, NR_144937.2:n.888dup, NR_144937.2:n.887_888dup, NR_144937.2:n.886_888dup, NR_144937.2:n.885_888dup, NR_144937.2:n.884_888dup, NR_144937.2:n.883_888dup, NR_144937.2:n.882_888dup, NR_144937.2:n.881_888dup, NR_144937.2:n.875_888dup, NR_144937.1:n.897_908del, NR_144937.1:n.899_908del, NR_144937.1:n.900_908del, NR_144937.1:n.903_908del, NR_144937.1:n.904_908del, NR_144937.1:n.906_908del, NR_144937.1:n.907_908del, NR_144937.1:n.908del, NR_144937.1:n.908dup, NR_144937.1:n.907_908dup, NR_144937.1:n.906_908dup, NR_144937.1:n.905_908dup, NR_144937.1:n.904_908dup, NR_144937.1:n.903_908dup, NR_144937.1:n.902_908dup, NR_144937.1:n.901_908dup, NR_144937.1:n.895_908dup, NR_037937.2:n.818_829del, NR_037937.2:n.820_829del, NR_037937.2:n.821_829del, NR_037937.2:n.824_829del, NR_037937.2:n.825_829del, NR_037937.2:n.827_829del, NR_037937.2:n.828_829del, NR_037937.2:n.829del, NR_037937.2:n.829dup, NR_037937.2:n.828_829dup, NR_037937.2:n.827_829dup, NR_037937.2:n.826_829dup, NR_037937.2:n.825_829dup, NR_037937.2:n.824_829dup, NR_037937.2:n.823_829dup, NR_037937.2:n.822_829dup, NR_037937.2:n.816_829dup, NR_037937.1:n.940_951del, NR_037937.1:n.942_951del, NR_037937.1:n.943_951del, NR_037937.1:n.946_951del, NR_037937.1:n.947_951del, NR_037937.1:n.949_951del, NR_037937.1:n.950_951del, NR_037937.1:n.951del, NR_037937.1:n.951dup, NR_037937.1:n.950_951dup, NR_037937.1:n.949_951dup, NR_037937.1:n.948_951dup, NR_037937.1:n.947_951dup, NR_037937.1:n.946_951dup, NR_037937.1:n.945_951dup, NR_037937.1:n.944_951dup, NR_037937.1:n.938_951dup

Select item 14900582006.

rs1490058200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151164605 (GRCh38)
1:151137081 (GRCh37)
Canonical SPDI:: NC_000001.11:151164604:T:C
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151164605T>C, NC_000001.10:g.151137081T>C

Select item 14894709957.

rs1489470995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151168851 (GRCh38)
1:151141327 (GRCh37)
Canonical SPDI:: NC_000001.11:151168850:T:C
Gene:: SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.151168851T>C, NC_000001.10:g.151141327T>C

Select item 14885380678.

rs1488538067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:151164441 (GRCh38)
1:151136917 (GRCh37)
Canonical SPDI:: NC_000001.11:151164440:C:A
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.151164441C>A, NC_000001.10:g.151136917C>A

Select item 14884791769.

rs1488479176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151165980 (GRCh38)
1:151138456 (GRCh37)
Canonical SPDI:: NC_000001.11:151165979:G:A
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.151165980G>A, NC_000001.10:g.151138456G>A

Select item 148840113610.

rs1488401136 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:151170603 (GRCh38)
1:151143080 (GRCh37)
Canonical SPDI:: NC_000001.11:151170603:GGG:GGGG
Gene:: TMOD4 (Varview), SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: frameshift_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151170606dup, NC_000001.10:g.151143082dup, NM_013353.3:c.930dup, NM_013353.2:c.930dup, XM_017001090.3:c.678dup, XM_017001090.2:c.678dup, XM_017001090.1:c.678dup, XM_011509449.2:c.930dup, XM_011509449.1:c.930dup, XM_047418672.1:c.930dup, NP_037485.2:p.Ser311fs, XP_016856579.1:p.Ser227fs, XP_011507751.1:p.Ser311fs, XP_047274628.1:p.Ser311fs

Select item 148836704711.

rs1488367047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:151168913 (GRCh38)
1:151141389 (GRCh37)
Canonical SPDI:: NC_000001.11:151168912:C:A,NC_000001.11:151168912:C:T
Gene:: SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151168913C>A, NC_000001.11:g.151168913C>T, NC_000001.10:g.151141389C>A, NC_000001.10:g.151141389C>T

Select item 148833965912.

rs1488339659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151165561 (GRCh38)
1:151138037 (GRCh37)
Canonical SPDI:: NC_000001.11:151165560:T:C
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151165561T>C, NC_000001.10:g.151138037T>C, NM_212551.5:c.-303A>G, NM_212551.4:c.-303A>G, XM_047420115.1:c.-303A>G, XM_047420105.1:c.-303A>G, XM_047420112.1:c.-303A>G

Select item 148792542713.

rs1487925427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151165575 (GRCh38)
1:151138051 (GRCh37)
Canonical SPDI:: NC_000001.11:151165574:A:G
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_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_000001.11:g.151165575A>G, NC_000001.10:g.151138051A>G, NM_212551.5:c.-317T>C, NM_212551.4:c.-317T>C, XM_047420115.1:c.-317T>C, XM_047420105.1:c.-317T>C, XM_047420112.1:c.-317T>C

Select item 148767752514.

rs1487677525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151166245 (GRCh38)
1:151138721 (GRCh37)
Canonical SPDI:: NC_000001.11:151166244:C:T
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151166245C>T, NC_000001.10:g.151138721C>T, NM_001204856.2:c.-62C>T, NM_001204856.1:c.-62C>T, NM_001002234.1:c.-62C>T

Select item 148761603415.

rs1487616034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151168686 (GRCh38)
1:151141162 (GRCh37)
Canonical SPDI:: NC_000001.11:151168685:G:A
Gene:: SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: 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_000001.11:g.151168686G>A, NC_000001.10:g.151141162G>A

Select item 148750626716.

rs1487506267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151169661 (GRCh38)
1:151142137 (GRCh37)
Canonical SPDI:: NC_000001.11:151169660:T:C
Gene:: TMOD4 (Varview), SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151169661T>C, NC_000001.10:g.151142137T>C, NM_024041.4:c.*576T>C, NM_024041.3:c.*576T>C, NM_001204856.2:c.*576T>C, NM_001204856.1:c.*576T>C, NM_001204848.2:c.*576T>C, NM_001204848.1:c.*576T>C, NR_144937.2:n.1287T>C, NR_144937.1:n.1307T>C, NR_037937.2:n.1228T>C, NR_037937.1:n.1350T>C

Select item 148666889917.

rs1486668899 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGA>- [Show Flanks]
Chromosome:: 1:151168426 (GRCh38)
1:151140902 (GRCh37)
Canonical SPDI:: NC_000001.11:151168425:GAGA:
Gene:: SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.151168426_151168429del, NC_000001.10:g.151140902_151140905del

Select item 148654498418.

rs1486544984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151170610 (GRCh38)
1:151143086 (GRCh37)
Canonical SPDI:: NC_000001.11:151170609:C:T
Gene:: TMOD4 (Varview), SCNM1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151170610C>T, NC_000001.10:g.151143086C>T, NM_013353.3:c.924G>A, NM_013353.2:c.924G>A, XM_017001090.3:c.672G>A, XM_017001090.2:c.672G>A, XM_017001090.1:c.672G>A, XM_011509449.2:c.924G>A, XM_011509449.1:c.924G>A, XM_047418672.1:c.924G>A

Select item 148637158819.

rs1486371588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151166392 (GRCh38)
1:151138868 (GRCh37)
Canonical SPDI:: NC_000001.11:151166391:C:T
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.151166392C>T, NC_000001.10:g.151138868C>T

Select item 148584443120.

rs1485844431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151166498 (GRCh38)
1:151138974 (GRCh37)
Canonical SPDI:: NC_000001.11:151166497:A:G
Gene:: SCNM1 (Varview), LYSMD1 (Varview), TNFAIP8L2-SCNM1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151166498A>G, NC_000001.10:g.151138974A>G, NM_024041.4:c.79A>G, NM_024041.3:c.79A>G, NM_001204856.2:c.-27A>G, NM_001204856.1:c.-27A>G, NM_001204848.2:c.-27A>G, NM_001204848.1:c.-27A>G, NR_144937.2:n.102A>G, NR_144937.1:n.122A>G, NR_037937.2:n.88A>G, NR_037937.1:n.210A>G, NM_001002234.1:c.-27A>G, NP_076946.1:p.Ser27Gly

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