SNP Links for Protein (Select 767908200) - SNP

Links from Protein

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Select item 14879575661.

rs1487957566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145731063 (GRCh38)
1:145704024 (GRCh37)
Canonical SPDI:: NC_000001.11:145731062:A:G
Gene:: CD160 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.145731063A>G, NW_003871055.3:g.2546476A>G, NC_000001.10:g.145704024T>C, XM_005272929.4:c.393A>G, XM_005272929.3:c.393A>G, XM_005272929.2:c.393A>G, XM_005272929.1:c.393A>G, NM_007053.4:c.393A>G, NM_007053.3:c.393A>G, XM_011509104.3:c.393A>G, XM_011509104.2:c.393A>G, XM_011509104.1:c.393A>G

Select item 14866610772.

rs1486661077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145736253 (GRCh38)
1:145698834 (GRCh37)
Canonical SPDI:: NC_000001.11:145736252:T:C
Gene:: CD160 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000045/2 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000011/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.145736253T>C, NW_003871055.3:g.2551666T>C, NC_000001.10:g.145698834A>G, XM_005272929.4:c.657T>C, XM_005272929.3:c.657T>C, XM_005272929.2:c.657T>C, XM_005272929.1:c.657T>C, XM_011509104.3:c.657T>C, XM_011509104.2:c.657T>C, XM_011509104.1:c.657T>C

Select item 14814450483.

rs1481445048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:145730935 (GRCh38)
1:145704152 (GRCh37)
Canonical SPDI:: NC_000001.11:145730934:G:C,NC_000001.11:145730934:G:T
Gene:: CD160 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.145730935G>C, NC_000001.11:g.145730935G>T, NW_003871055.3:g.2546348G>C, NW_003871055.3:g.2546348G>T, NC_000001.10:g.145704152C>G, NC_000001.10:g.145704152C>A, XM_005272929.4:c.265G>C, XM_005272929.4:c.265G>T, XM_005272929.3:c.265G>C, XM_005272929.3:c.265G>T, XM_005272929.2:c.265G>C, XM_005272929.2:c.265G>T, XM_005272929.1:c.265G>C, XM_005272929.1:c.265G>T, NM_007053.4:c.265G>C, NM_007053.4:c.265G>T, NM_007053.3:c.265G>C, NM_007053.3:c.265G>T, XM_011509104.3:c.265G>C, XM_011509104.3:c.265G>T, XM_011509104.2:c.265G>C, XM_011509104.2:c.265G>T, XM_011509104.1:c.265G>C, XM_011509104.1:c.265G>T, XP_005272986.1:p.Gly89Arg, XP_005272986.1:p.Gly89Cys, NP_008984.1:p.Gly89Arg, NP_008984.1:p.Gly89Cys, XP_011507406.1:p.Gly89Arg, XP_011507406.1:p.Gly89Cys

Select item 14743238104.

rs1474323810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:145736235 (GRCh38)
1:145698852 (GRCh37)
Canonical SPDI:: NC_000001.11:145736234:C:G
Gene:: CD160 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000104/21 (GnomAD_exomes)
G=0.00023/61 (TOPMED)
G=0.000285/40 (GnomAD)
HGVS:: NC_000001.11:g.145736235C>G, NW_003871055.3:g.2551648C>G, NC_000001.10:g.145698852G>C, XM_005272929.4:c.639C>G, XM_005272929.3:c.639C>G, XM_005272929.2:c.639C>G, XM_005272929.1:c.639C>G, XM_011509104.3:c.639C>G, XM_011509104.2:c.639C>G, XM_011509104.1:c.639C>G

Select item 14684533725.

rs1468453372 has merged into rs377407780 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTG>- [Show Flanks]
Chromosome:: 1:145728354 (GRCh38)
1:145706734 (GRCh37)
Canonical SPDI:: NC_000001.11:145728349:GCTGCTG:GCTG
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTG=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
-=0.000034/9 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.145728351CTG[1], NW_003871055.3:g.2543764CTG[1], NC_000001.10:g.145706731AGC[1], XM_005272929.4:c.24CTG[1], XM_005272929.3:c.24CTG[1], XM_005272929.2:c.24CTG[1], XM_005272929.1:c.24CTG[1], NM_007053.4:c.24CTG[1], NM_007053.3:c.24CTG[1], XM_011509104.3:c.24CTG[1], XM_011509104.2:c.24CTG[1], XM_011509104.1:c.24CTG[1], XP_005272986.1:p.Cys10del, NP_008984.1:p.Cys10del, XP_011507406.1:p.Cys10del

Select item 14613576996.

rs1461357699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145730786 (GRCh38)
1:145704301 (GRCh37)
Canonical SPDI:: NC_000001.11:145730785:G:A
Gene:: CD160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.145730786G>A, NW_003871055.3:g.2546199G>A, NC_000001.10:g.145704301C>T, XM_005272929.4:c.116G>A, XM_005272929.3:c.116G>A, XM_005272929.2:c.116G>A, XM_005272929.1:c.116G>A, NM_007053.4:c.116G>A, NM_007053.3:c.116G>A, XM_011509104.3:c.116G>A, XM_011509104.2:c.116G>A, XM_011509104.1:c.116G>A, XP_005272986.1:p.Arg39Gln, NP_008984.1:p.Arg39Gln, XP_011507406.1:p.Arg39Gln

Select item 14606678347.

rs1460667834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145730869 (GRCh38)
1:145704218 (GRCh37)
Canonical SPDI:: NC_000001.11:145730868:G:A
Gene:: CD160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.145730869G>A, NW_003871055.3:g.2546282G>A, NC_000001.10:g.145704218C>T, XM_005272929.4:c.199G>A, XM_005272929.3:c.199G>A, XM_005272929.2:c.199G>A, XM_005272929.1:c.199G>A, NM_007053.4:c.199G>A, NM_007053.3:c.199G>A, XM_011509104.3:c.199G>A, XM_011509104.2:c.199G>A, XM_011509104.1:c.199G>A, XP_005272986.1:p.Asp67Asn, NP_008984.1:p.Asp67Asn, XP_011507406.1:p.Asp67Asn

Select item 14362599468.

rs1436259946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:145736220 (GRCh38)
1:145698867 (GRCh37)
Canonical SPDI:: NC_000001.11:145736219:G:T
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,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_000001.11:g.145736220G>T, NW_003871055.3:g.2551633G>T, NC_000001.10:g.145698867C>A, XM_005272929.4:c.624G>T, XM_005272929.3:c.624G>T, XM_005272929.2:c.624G>T, XM_005272929.1:c.624G>T, XM_011509104.3:c.624G>T, XM_011509104.2:c.624G>T, XM_011509104.1:c.624G>T, XP_005272986.1:p.Arg208Ser, XP_011507406.1:p.Arg208Ser

Select item 14359623659.

rs1435962365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:145730995 (GRCh38)
1:145704092 (GRCh37)
Canonical SPDI:: NC_000001.11:145730994:A:C,NC_000001.11:145730994:A:T
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
C=0.003275/6 (Korea1K)
HGVS:: NC_000001.11:g.145730995A>C, NC_000001.11:g.145730995A>T, NW_003871055.3:g.2546408A>C, NW_003871055.3:g.2546408A>T, NC_000001.10:g.145704092T>G, NC_000001.10:g.145704092T>A, XM_005272929.4:c.325A>C, XM_005272929.4:c.325A>T, XM_005272929.3:c.325A>C, XM_005272929.3:c.325A>T, XM_005272929.2:c.325A>C, XM_005272929.2:c.325A>T, XM_005272929.1:c.325A>C, XM_005272929.1:c.325A>T, NM_007053.4:c.325A>C, NM_007053.4:c.325A>T, NM_007053.3:c.325A>C, NM_007053.3:c.325A>T, XM_011509104.3:c.325A>C, XM_011509104.3:c.325A>T, XM_011509104.2:c.325A>C, XM_011509104.2:c.325A>T, XM_011509104.1:c.325A>C, XM_011509104.1:c.325A>T, XP_005272986.1:p.Thr109Pro, XP_005272986.1:p.Thr109Ser, NP_008984.1:p.Thr109Pro, NP_008984.1:p.Thr109Ser, XP_011507406.1:p.Thr109Pro, XP_011507406.1:p.Thr109Ser

Select item 142585891910.

rs1425858919 has merged into rs781915020 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:145731005 (GRCh38)
1:145704082 (GRCh37)
Canonical SPDI:: NC_000001.11:145731004:G:
Gene:: CD160 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000011/3 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000001.11:g.145731005del, NW_003871055.3:g.2546418del, NC_000001.10:g.145704082del, XM_005272929.4:c.335del, XM_005272929.3:c.335del, XM_005272929.2:c.335del, XM_005272929.1:c.335del, NM_007053.4:c.335del, NM_007053.3:c.335del, XM_011509104.3:c.335del, XM_011509104.2:c.335del, XM_011509104.1:c.335del, XP_005272986.1:p.Cys112fs, NP_008984.1:p.Cys112fs, XP_011507406.1:p.Cys112fs

Select item 142213864711.

rs1422138647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:145730756 (GRCh38)
1:145704331 (GRCh37)
Canonical SPDI:: NC_000001.11:145730755:T:A
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145730756T>A, NW_003871055.3:g.2546169T>A, NC_000001.10:g.145704331A>T, XM_005272929.4:c.86T>A, XM_005272929.3:c.86T>A, XM_005272929.2:c.86T>A, XM_005272929.1:c.86T>A, NM_007053.4:c.86T>A, NM_007053.3:c.86T>A, XM_011509104.3:c.86T>A, XM_011509104.2:c.86T>A, XM_011509104.1:c.86T>A, XP_005272986.1:p.Ile29Asn, NP_008984.1:p.Ile29Asn, XP_011507406.1:p.Ile29Asn

Select item 142032273712.

rs1420322737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145731045 (GRCh38)
1:145704042 (GRCh37)
Canonical SPDI:: NC_000001.11:145731044:C:T
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.145731045C>T, NW_003871055.3:g.2546458C>T, NC_000001.10:g.145704042G>A, XM_005272929.4:c.375C>T, XM_005272929.3:c.375C>T, XM_005272929.2:c.375C>T, XM_005272929.1:c.375C>T, NM_007053.4:c.375C>T, NM_007053.3:c.375C>T, XM_011509104.3:c.375C>T, XM_011509104.2:c.375C>T, XM_011509104.1:c.375C>T

Select item 141981302113.

rs1419813021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:145736114 (GRCh38)
1:145698973 (GRCh37)
Canonical SPDI:: NC_000001.11:145736113:C:A
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145736114C>A, NW_003871055.3:g.2551527C>A, NC_000001.10:g.145698973G>T, XM_005272929.4:c.518C>A, XM_005272929.3:c.518C>A, XM_005272929.2:c.518C>A, XM_005272929.1:c.518C>A, NM_007053.4:c.518C>A, NM_007053.3:c.518C>A, XM_011509104.3:c.518C>A, XM_011509104.2:c.518C>A, XM_011509104.1:c.518C>A, NR_103845.2:n.285C>A, NR_103845.1:n.338C>A, XP_005272986.1:p.Thr173Asn, NP_008984.1:p.Thr173Asn, XP_011507406.1:p.Thr173Asn

Select item 140510495214.

rs1405104952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145730888 (GRCh38)
1:145704199 (GRCh37)
Canonical SPDI:: NC_000001.11:145730887:G:A
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.145730888G>A, NW_003871055.3:g.2546301G>A, NC_000001.10:g.145704199C>T, XM_005272929.4:c.218G>A, XM_005272929.3:c.218G>A, XM_005272929.2:c.218G>A, XM_005272929.1:c.218G>A, NM_007053.4:c.218G>A, NM_007053.3:c.218G>A, XM_011509104.3:c.218G>A, XM_011509104.2:c.218G>A, XM_011509104.1:c.218G>A, XP_005272986.1:p.Ser73Asn, NP_008984.1:p.Ser73Asn, XP_011507406.1:p.Ser73Asn

Select item 140111874015.

rs1401118740 has merged into rs782264008 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 1:145736214 (GRCh38)
1:145698876 (GRCh37)
Canonical SPDI:: NC_000001.11:145736208:AGGAGGAG:AGGAG
Gene:: CD160 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAG=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000018/4 (GnomAD_exomes)
-=0.00002/1 (ExAC)
HGVS:: NC_000001.11:g.145736211GAG[1], NW_003871055.3:g.2551624GAG[1], NC_000001.10:g.145698873CCT[1], XM_005272929.4:c.615GAG[1], XM_005272929.3:c.615GAG[1], XM_005272929.2:c.615GAG[1], XM_005272929.1:c.615GAG[1], XM_011509104.3:c.615GAG[1], XM_011509104.2:c.615GAG[1], XM_011509104.1:c.615GAG[1], XP_005272986.1:p.Arg208del, XP_011507406.1:p.Arg208del

Select item 139390699416.

rs1393906994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:145736115 (GRCh38)
1:145698972 (GRCh37)
Canonical SPDI:: NC_000001.11:145736114:C:G
Gene:: CD160 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145736115C>G, NW_003871055.3:g.2551528C>G, NC_000001.10:g.145698972G>C, XM_005272929.4:c.519C>G, XM_005272929.3:c.519C>G, XM_005272929.2:c.519C>G, XM_005272929.1:c.519C>G, NM_007053.4:c.519C>G, NM_007053.3:c.519C>G, XM_011509104.3:c.519C>G, XM_011509104.2:c.519C>G, XM_011509104.1:c.519C>G, NR_103845.2:n.286C>G, NR_103845.1:n.339C>G

Select item 138397270417.

rs1383972704 has merged into rs782209843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:145730910 (GRCh38)
1:145704178 (GRCh37)
Canonical SPDI:: NC_000001.11:145730907:AAAA:AA
Gene:: CD160 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000043/1 (ALFA)
-=0./0 (ALSPAC)
-=0.000004/1 (TOPMED)
-=0.000008/1 (ExAC)
-=0.000012/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000539/2 (TWINSUK)
HGVS:: NC_000001.11:g.145730910_145730911del, NW_003871055.3:g.2546323_2546324del, NC_000001.10:g.145704178_145704179del, XM_005272929.4:c.240_241del, XM_005272929.3:c.240_241del, XM_005272929.2:c.240_241del, XM_005272929.1:c.240_241del, NM_007053.4:c.240_241del, NM_007053.3:c.240_241del, XM_011509104.3:c.240_241del, XM_011509104.2:c.240_241del, XM_011509104.1:c.240_241del, XP_005272986.1:p.Arg81fs, NP_008984.1:p.Arg81fs, XP_011507406.1:p.Arg81fs

Select item 138365446718.

rs1383654467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145730860 (GRCh38)
1:145704227 (GRCh37)
Canonical SPDI:: NC_000001.11:145730859:A:G
Gene:: CD160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.145730860A>G, NW_003871055.3:g.2546273A>G, NC_000001.10:g.145704227T>C, XM_005272929.4:c.190A>G, XM_005272929.3:c.190A>G, XM_005272929.2:c.190A>G, XM_005272929.1:c.190A>G, NM_007053.4:c.190A>G, NM_007053.3:c.190A>G, XM_011509104.3:c.190A>G, XM_011509104.2:c.190A>G, XM_011509104.1:c.190A>G, XP_005272986.1:p.Arg64Gly, NP_008984.1:p.Arg64Gly, XP_011507406.1:p.Arg64Gly

Select item 138222307119.

rs1382223071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:145736095 (GRCh38)
1:145698992 (GRCh37)
Canonical SPDI:: NC_000001.11:145736094:G:A,NC_000001.11:145736094:G:T
Gene:: CD160 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145736095G>A, NC_000001.11:g.145736095G>T, NW_003871055.3:g.2551508G>A, NW_003871055.3:g.2551508G>T, NC_000001.10:g.145698992C>T, NC_000001.10:g.145698992C>A, XM_005272929.4:c.499G>A, XM_005272929.4:c.499G>T, XM_005272929.3:c.499G>A, XM_005272929.3:c.499G>T, XM_005272929.2:c.499G>A, XM_005272929.2:c.499G>T, XM_005272929.1:c.499G>A, XM_005272929.1:c.499G>T, NM_007053.4:c.499G>A, NM_007053.4:c.499G>T, NM_007053.3:c.499G>A, NM_007053.3:c.499G>T, XM_011509104.3:c.499G>A, XM_011509104.3:c.499G>T, XM_011509104.2:c.499G>A, XM_011509104.2:c.499G>T, XM_011509104.1:c.499G>A, XM_011509104.1:c.499G>T, NR_103845.2:n.266G>A, NR_103845.2:n.266G>T, NR_103845.1:n.319G>A, NR_103845.1:n.319G>T, XP_005272986.1:p.Val167Ile, XP_005272986.1:p.Val167Phe, NP_008984.1:p.Val167Ile, NP_008984.1:p.Val167Phe, XP_011507406.1:p.Val167Ile, XP_011507406.1:p.Val167Phe

Select item 138021138720.

rs1380211387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145731020 (GRCh38)
1:145704067 (GRCh37)
Canonical SPDI:: NC_000001.11:145731019:A:G
Gene:: CD160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.145731020A>G, NW_003871055.3:g.2546433A>G, NC_000001.10:g.145704067T>C, XM_005272929.4:c.350A>G, XM_005272929.3:c.350A>G, XM_005272929.2:c.350A>G, XM_005272929.1:c.350A>G, NM_007053.4:c.350A>G, NM_007053.3:c.350A>G, XM_011509104.3:c.350A>G, XM_011509104.2:c.350A>G, XM_011509104.1:c.350A>G, XP_005272986.1:p.Gln117Arg, NP_008984.1:p.Gln117Arg, XP_011507406.1:p.Gln117Arg

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