SNP Links for Protein (Select 167466207) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10335109 (GRCh38)
19:10445785 (GRCh37)
Canonical SPDI:: NC_000019.10:10335108:T:C
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10335109T>C, NC_000019.9:g.10445785T>C, NM_002162.5:c.894A>G, NM_002162.4:c.894A>G, NM_002162.3:c.894A>G, NM_001320608.2:c.111A>G, NM_001320608.1:c.111A>G, NM_001320606.2:c.663A>G, NM_001320606.1:c.663A>G, NM_001395374.1:c.309A>G

Select item 14745388509.

rs1474538850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10335722 (GRCh38)
19:10446398 (GRCh37)
Canonical SPDI:: NC_000019.10:10335721:C:T
Gene:: ICAM3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.10335722C>T, NC_000019.9:g.10446398C>T, NM_002162.5:c.598G>A, NM_002162.4:c.598G>A, NM_002162.3:c.598G>A, NM_001320608.2:c.-503G>A, NM_001320608.1:c.-503G>A, NM_001320606.2:c.367G>A, NM_001320606.1:c.367G>A, NM_001320605.2:c.598G>A, NM_001320605.1:c.598G>A, NM_001395374.1:c.13G>A, NM_001395375.1:c.13G>A, NP_002153.2:p.Gly200Arg, NP_001307535.1:p.Gly123Arg, NP_001307534.1:p.Gly200Arg, NP_001382303.1:p.Gly5Arg, NP_001382304.1:p.Gly5Arg

Select item 147453197010.

rs1474531970 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACG>- [Show Flanks]
Chromosome:: 19:10335297 (GRCh38)
19:10445973 (GRCh37)
Canonical SPDI:: NC_000019.10:10335293:ACGACG:ACG
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGACG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000531/9 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.10335294ACG[1], NC_000019.9:g.10445970ACG[1], NM_002162.5:c.704CGT[1], NM_002162.4:c.704CGT[1], NM_002162.3:c.704CGT[1], NM_001320608.2:c.-80CGT[1], NM_001320608.1:c.-80CGT[1], NM_001320606.2:c.473CGT[1], NM_001320606.1:c.473CGT[1], NM_001395374.1:c.119CGT[1], NP_002153.2:p.Ser236del, NP_001307535.1:p.Ser159del, NP_001382303.1:p.Ser41del

Select item 147393575811.

rs1473935758 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCTG [Show Flanks]
Chromosome:: 19:10334199 (GRCh38)
19:10444876 (GRCh37)
Canonical SPDI:: NC_000019.10:10334199:TGAGCTG:TGAGCTGAGCTG
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAGCTGAGCTG=0./0 (ALFA)
TGAGC=0.000004/1 (GnomAD_exomes)
TGAGC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10334202_10334206dup, NC_000019.9:g.10444878_10444882dup, NM_002162.5:c.1397_1401dup, NM_002162.4:c.1397_1401dup, NM_002162.3:c.1397_1401dup, NM_001320608.2:c.614_618dup, NM_001320608.1:c.614_618dup, NM_001320606.2:c.1166_1170dup, NM_001320606.1:c.1166_1170dup, NM_001320605.2:c.1109_1113dup, NM_001320605.1:c.1109_1113dup, NM_001395374.1:c.812_816dup, NM_001395375.1:c.524_528dup, NM_001395376.1:c.389_393dup, NP_002153.2:p.Arg468fs, NP_001307537.1:p.Arg207fs, NP_001307535.1:p.Arg391fs, NP_001307534.1:p.Arg372fs, NP_001382303.1:p.Arg273fs, NP_001382304.1:p.Arg177fs, NP_001382305.1:p.Arg132fs

Select item 147388345712.

rs1473883457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:10335073 (GRCh38)
19:10445749 (GRCh37)
Canonical SPDI:: NC_000019.10:10335072:C:G,NC_000019.10:10335072:C:T
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10335073C>G, NC_000019.10:g.10335073C>T, NC_000019.9:g.10445749C>G, NC_000019.9:g.10445749C>T, NM_002162.5:c.930G>C, NM_002162.5:c.930G>A, NM_002162.4:c.930G>C, NM_002162.4:c.930G>A, NM_002162.3:c.930G>C, NM_002162.3:c.930G>A, NM_001320608.2:c.147G>C, NM_001320608.2:c.147G>A, NM_001320608.1:c.147G>C, NM_001320608.1:c.147G>A, NM_001320606.2:c.699G>C, NM_001320606.2:c.699G>A, NM_001320606.1:c.699G>C, NM_001320606.1:c.699G>A, NM_001395374.1:c.345G>C, NM_001395374.1:c.345G>A

Select item 147334038713.

rs1473340387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10333951 (GRCh38)
19:10444627 (GRCh37)
Canonical SPDI:: NC_000019.10:10333950:C:T
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10333951C>T, NC_000019.9:g.10444627C>T, NM_002162.5:c.1550G>A, NM_002162.4:c.1550G>A, NM_002162.3:c.1550G>A, NM_001320608.2:c.767G>A, NM_001320608.1:c.767G>A, NM_001320606.2:c.1319G>A, NM_001320606.1:c.1319G>A, NM_001320605.2:c.1262G>A, NM_001320605.1:c.1262G>A, NM_001395374.1:c.965G>A, NM_001395375.1:c.677G>A, NM_001395376.1:c.542G>A, NP_002153.2:p.Gly517Asp, NP_001307537.1:p.Gly256Asp, NP_001307535.1:p.Gly440Asp, NP_001307534.1:p.Gly421Asp, NP_001382303.1:p.Gly322Asp, NP_001382304.1:p.Gly226Asp, NP_001382305.1:p.Gly181Asp

Select item 147149576514.

rs1471495765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:10334354 (GRCh38)
19:10445030 (GRCh37)
Canonical SPDI:: NC_000019.10:10334353:T:G
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10334354T>G, NC_000019.9:g.10445030T>G, NM_002162.5:c.1247A>C, NM_002162.4:c.1247A>C, NM_002162.3:c.1247A>C, NM_001320608.2:c.464A>C, NM_001320608.1:c.464A>C, NM_001320606.2:c.1016A>C, NM_001320606.1:c.1016A>C, NM_001320605.2:c.959A>C, NM_001320605.1:c.959A>C, NM_001395374.1:c.662A>C, NM_001395375.1:c.374A>C, NM_001395376.1:c.239A>C, NP_002153.2:p.Lys416Thr, NP_001307537.1:p.Lys155Thr, NP_001307535.1:p.Lys339Thr, NP_001307534.1:p.Lys320Thr, NP_001382303.1:p.Lys221Thr, NP_001382304.1:p.Lys125Thr, NP_001382305.1:p.Lys80Thr

Select item 147065632315.

rs1470656323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10334561 (GRCh38)
19:10445237 (GRCh37)
Canonical SPDI:: NC_000019.10:10334560:G:A
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.10334561G>A, NC_000019.9:g.10445237G>A, NM_002162.5:c.1159C>T, NM_002162.4:c.1159C>T, NM_002162.3:c.1159C>T, NM_001320608.2:c.376C>T, NM_001320608.1:c.376C>T, NM_001320606.2:c.928C>T, NM_001320606.1:c.928C>T, NM_001320605.2:c.871C>T, NM_001320605.1:c.871C>T, NM_001395374.1:c.574C>T, NM_001395375.1:c.286C>T, NM_001395376.1:c.151C>T, NP_002153.2:p.His387Tyr, NP_001307537.1:p.His126Tyr, NP_001307535.1:p.His310Tyr, NP_001307534.1:p.His291Tyr, NP_001382303.1:p.His192Tyr, NP_001382304.1:p.His96Tyr, NP_001382305.1:p.His51Tyr

Select item 146818291516.

rs1468182915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10335124 (GRCh38)
19:10445800 (GRCh37)
Canonical SPDI:: NC_000019.10:10335123:G:A
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.10335124G>A, NC_000019.9:g.10445800G>A, NM_002162.5:c.879C>T, NM_002162.4:c.879C>T, NM_002162.3:c.879C>T, NM_001320608.2:c.96C>T, NM_001320608.1:c.96C>T, NM_001320606.2:c.648C>T, NM_001320606.1:c.648C>T, NM_001395374.1:c.294C>T

Select item 146669017717.

rs1466690177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:10334344 (GRCh38)
19:10445020 (GRCh37)
Canonical SPDI:: NC_000019.10:10334343:G:C
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10334344G>C, NC_000019.9:g.10445020G>C, NM_002162.5:c.1257C>G, NM_002162.4:c.1257C>G, NM_002162.3:c.1257C>G, NM_001320608.2:c.474C>G, NM_001320608.1:c.474C>G, NM_001320606.2:c.1026C>G, NM_001320606.1:c.1026C>G, NM_001320605.2:c.969C>G, NM_001320605.1:c.969C>G, NM_001395374.1:c.672C>G, NM_001395375.1:c.384C>G, NM_001395376.1:c.249C>G, NP_002153.2:p.His419Gln, NP_001307537.1:p.His158Gln, NP_001307535.1:p.His342Gln, NP_001307534.1:p.His323Gln, NP_001382303.1:p.His224Gln, NP_001382304.1:p.His128Gln, NP_001382305.1:p.His83Gln

Select item 146656346818.

rs1466563468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10335349 (GRCh38)
19:10446025 (GRCh37)
Canonical SPDI:: NC_000019.10:10335348:C:T
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
HGVS:: NC_000019.10:g.10335349C>T, NC_000019.9:g.10446025C>T, NM_002162.5:c.654G>A, NM_002162.4:c.654G>A, NM_002162.3:c.654G>A, NM_001320608.2:c.-130G>A, NM_001320608.1:c.-130G>A, NM_001320606.2:c.423G>A, NM_001320606.1:c.423G>A, NM_001395374.1:c.69G>A

Select item 146435882019.

rs1464358820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10333884 (GRCh38)
19:10444560 (GRCh37)
Canonical SPDI:: NC_000019.10:10333883:C:T
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.10333884C>T, NC_000019.9:g.10444560C>T, NM_002162.5:c.1617G>A, NM_002162.4:c.1617G>A, NM_002162.3:c.1617G>A, NM_001320608.2:c.834G>A, NM_001320608.1:c.834G>A, NM_001320606.2:c.1386G>A, NM_001320606.1:c.1386G>A, NM_001320605.2:c.1329G>A, NM_001320605.1:c.1329G>A, NM_001395374.1:c.1032G>A, NM_001395375.1:c.744G>A, NM_001395376.1:c.609G>A, NP_002153.2:p.Met539Ile, NP_001307537.1:p.Met278Ile, NP_001307535.1:p.Met462Ile, NP_001307534.1:p.Met443Ile, NP_001382303.1:p.Met344Ile, NP_001382304.1:p.Met248Ile, NP_001382305.1:p.Met203Ile

Select item 146432247020.

rs1464322470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10333919 (GRCh38)
19:10444595 (GRCh37)
Canonical SPDI:: NC_000019.10:10333918:G:A
Gene:: ICAM3 (Varview), RAVER1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.10333919G>A, NC_000019.9:g.10444595G>A, NM_002162.5:c.1582C>T, NM_002162.4:c.1582C>T, NM_002162.3:c.1582C>T, NM_001320608.2:c.799C>T, NM_001320608.1:c.799C>T, NM_001320606.2:c.1351C>T, NM_001320606.1:c.1351C>T, NM_001320605.2:c.1294C>T, NM_001320605.1:c.1294C>T, NM_001395374.1:c.997C>T, NM_001395375.1:c.709C>T, NM_001395376.1:c.574C>T

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