SNP Links for Protein (Select 767957105) - SNP

Select item 14909922811.

rs1490992281 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:123371448 (GRCh38)
9:126133728 (GRCh37)
Canonical SPDI:: NC_000009.12:123371448:CC:CCC
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.123371450dup, NC_000009.11:g.126133729dup, NG_051311.1:g.22386dup, NM_173689.7:c.2308dup, NM_173689.6:c.2308dup, NM_173689.5:c.2308dup, NR_104603.2:n.1422dup, NR_104603.1:n.1422dup, XM_011518558.4:c.2113dup, XM_011518558.3:c.2113dup, XM_011518558.2:c.2113dup, XM_011518558.1:c.2113dup, XM_011518557.4:c.2113dup, XM_011518557.3:c.2113dup, XM_011518557.2:c.2113dup, XM_011518557.1:c.2113dup, XM_011518556.4:c.2308dup, XM_011518556.3:c.2308dup, XM_011518556.2:c.2308dup, XM_011518556.1:c.2308dup, XM_005251934.4:c.1312dup, XM_005251934.3:c.1312dup, XM_005251934.2:c.1312dup, XM_005251934.1:c.1312dup, XM_047423244.1:c.2194dup, XM_047423245.1:c.2194dup, NP_775960.4:p.Leu770fs, XP_011516860.1:p.Leu705fs, XP_011516859.1:p.Leu705fs, XP_011516858.1:p.Leu770fs, XP_005251991.1:p.Leu438fs, XP_047279200.1:p.Leu732fs, XP_047279201.1:p.Leu732fs

Select item 14899848822.

rs1489984882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123371544 (GRCh38)
9:126133823 (GRCh37)
Canonical SPDI:: NC_000009.12:123371543:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.123371544T>C, NC_000009.11:g.126133823T>C, NG_051311.1:g.22480T>C, NM_173689.7:c.2402T>C, NM_173689.6:c.2402T>C, NM_173689.5:c.2402T>C, NR_104603.2:n.1516T>C, NR_104603.1:n.1516T>C, XM_011518558.4:c.2207T>C, XM_011518558.3:c.2207T>C, XM_011518558.2:c.2207T>C, XM_011518558.1:c.2207T>C, XM_011518557.4:c.2207T>C, XM_011518557.3:c.2207T>C, XM_011518557.2:c.2207T>C, XM_011518557.1:c.2207T>C, XM_011518556.4:c.2402T>C, XM_011518556.3:c.2402T>C, XM_011518556.2:c.2402T>C, XM_011518556.1:c.2402T>C, XM_005251934.4:c.1406T>C, XM_005251934.3:c.1406T>C, XM_005251934.2:c.1406T>C, XM_005251934.1:c.1406T>C, XM_047423244.1:c.2288T>C, XM_047423245.1:c.2288T>C, NP_775960.4:p.Leu801Pro, XP_011516860.1:p.Leu736Pro, XP_011516859.1:p.Leu736Pro, XP_011516858.1:p.Leu801Pro, XP_005251991.1:p.Leu469Pro, XP_047279200.1:p.Leu763Pro, XP_047279201.1:p.Leu763Pro

Select item 14877421363.

rs1487742136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:123370272 (GRCh38)
9:126132551 (GRCh37)
Canonical SPDI:: NC_000009.12:123370271:C:T
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.123370272C>T, NC_000009.11:g.126132551C>T, NG_051311.1:g.21208C>T, NM_173689.7:c.1219C>T, NM_173689.6:c.1219C>T, NM_173689.5:c.1219C>T, NR_104603.2:n.333C>T, NR_104603.1:n.333C>T, XM_011518558.4:c.1024C>T, XM_011518558.3:c.1024C>T, XM_011518558.2:c.1024C>T, XM_011518558.1:c.1024C>T, XM_011518557.4:c.1024C>T, XM_011518557.3:c.1024C>T, XM_011518557.2:c.1024C>T, XM_011518557.1:c.1024C>T, XM_011518556.4:c.1219C>T, XM_011518556.3:c.1219C>T, XM_011518556.2:c.1219C>T, XM_011518556.1:c.1219C>T, XM_005251934.4:c.223C>T, XM_005251934.3:c.223C>T, XM_005251934.2:c.223C>T, XM_005251934.1:c.223C>T, XM_047423244.1:c.1105C>T, XM_047423245.1:c.1105C>T

Select item 14876026804.

rs1487602680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123373530 (GRCh38)
9:126135809 (GRCh37)
Canonical SPDI:: NC_000009.12:123373529:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000009.12:g.123373530G>A, NC_000009.11:g.126135809G>A, NG_051311.1:g.24466G>A, NM_173689.7:c.2999G>A, NM_173689.6:c.2999G>A, NM_173689.5:c.2999G>A, NR_104603.2:n.2113G>A, NR_104603.1:n.2113G>A, XM_011518558.4:c.2804G>A, XM_011518558.3:c.2804G>A, XM_011518558.2:c.2804G>A, XM_011518558.1:c.2804G>A, XM_011518557.4:c.2804G>A, XM_011518557.3:c.2804G>A, XM_011518557.2:c.2804G>A, XM_011518557.1:c.2804G>A, XM_011518556.4:c.2972G>A, XM_011518556.3:c.2972G>A, XM_011518556.2:c.2972G>A, XM_011518556.1:c.2972G>A, XM_005251934.4:c.2003G>A, XM_005251934.3:c.2003G>A, XM_005251934.2:c.2003G>A, XM_005251934.1:c.2003G>A, XM_047423244.1:c.2885G>A, XM_047423245.1:c.2858G>A, NP_775960.4:p.Gly1000Asp, XP_011516860.1:p.Gly935Asp, XP_011516859.1:p.Gly935Asp, XP_011516858.1:p.Gly991Asp, XP_005251991.1:p.Gly668Asp, XP_047279200.1:p.Gly962Asp, XP_047279201.1:p.Gly953Asp

Select item 14872414265.

rs1487241426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:123362904 (GRCh38)
9:126125183 (GRCh37)
Canonical SPDI:: NC_000009.12:123362903:A:G
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123362904A>G, NC_000009.11:g.126125183A>G, NG_051311.1:g.13840A>G, NM_173689.7:c.134A>G, NM_173689.6:c.134A>G, NM_173689.5:c.134A>G, XM_011518558.4:c.-62A>G, XM_011518558.3:c.-62A>G, XM_011518558.2:c.-62A>G, XM_011518558.1:c.-62A>G, XM_011518557.4:c.-62A>G, XM_011518557.3:c.-62A>G, XM_011518557.2:c.-62A>G, XM_011518557.1:c.-62A>G, XM_011518556.4:c.134A>G, XM_011518556.3:c.134A>G, XM_011518556.2:c.134A>G, XM_011518556.1:c.134A>G, XM_047423244.1:c.134A>G, XM_047423245.1:c.134A>G, NP_775960.4:p.Asp45Gly, XP_011516858.1:p.Asp45Gly, XP_047279200.1:p.Asp45Gly, XP_047279201.1:p.Asp45Gly

Select item 14863149686.

rs1486314968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:123363057 (GRCh38)
9:126125336 (GRCh37)
Canonical SPDI:: NC_000009.12:123363056:G:A,NC_000009.12:123363056:G:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.123363057G>A, NC_000009.12:g.123363057G>C, NC_000009.11:g.126125336G>A, NC_000009.11:g.126125336G>C, NG_051311.1:g.13993G>A, NG_051311.1:g.13993G>C, NM_173689.7:c.287G>A, NM_173689.7:c.287G>C, NM_173689.6:c.287G>A, NM_173689.6:c.287G>C, NM_173689.5:c.287G>A, NM_173689.5:c.287G>C, XM_011518558.4:c.92G>A, XM_011518558.4:c.92G>C, XM_011518558.3:c.92G>A, XM_011518558.3:c.92G>C, XM_011518558.2:c.92G>A, XM_011518558.2:c.92G>C, XM_011518558.1:c.92G>A, XM_011518558.1:c.92G>C, XM_011518557.4:c.92G>A, XM_011518557.4:c.92G>C, XM_011518557.3:c.92G>A, XM_011518557.3:c.92G>C, XM_011518557.2:c.92G>A, XM_011518557.2:c.92G>C, XM_011518557.1:c.92G>A, XM_011518557.1:c.92G>C, XM_011518556.4:c.287G>A, XM_011518556.4:c.287G>C, XM_011518556.3:c.287G>A, XM_011518556.3:c.287G>C, XM_011518556.2:c.287G>A, XM_011518556.2:c.287G>C, XM_011518556.1:c.287G>A, XM_011518556.1:c.287G>C, XM_047423244.1:c.287G>A, XM_047423244.1:c.287G>C, XM_047423245.1:c.287G>A, XM_047423245.1:c.287G>C, NP_775960.4:p.Cys96Tyr, NP_775960.4:p.Cys96Ser, XP_011516860.1:p.Cys31Tyr, XP_011516860.1:p.Cys31Ser, XP_011516859.1:p.Cys31Tyr, XP_011516859.1:p.Cys31Ser, XP_011516858.1:p.Cys96Tyr, XP_011516858.1:p.Cys96Ser, XP_047279200.1:p.Cys96Tyr, XP_047279200.1:p.Cys96Ser, XP_047279201.1:p.Cys96Tyr, XP_047279201.1:p.Cys96Ser

Select item 14845453427.

rs1484545342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123367194 (GRCh38)
9:126129473 (GRCh37)
Canonical SPDI:: NC_000009.12:123367193:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123367194G>A, NC_000009.11:g.126129473G>A, NG_051311.1:g.18130G>A, NM_173689.7:c.777G>A, NM_173689.6:c.777G>A, NM_173689.5:c.777G>A, XM_011518558.4:c.582G>A, XM_011518558.3:c.582G>A, XM_011518558.2:c.582G>A, XM_011518558.1:c.582G>A, XM_011518557.4:c.582G>A, XM_011518557.3:c.582G>A, XM_011518557.2:c.582G>A, XM_011518557.1:c.582G>A, XM_011518556.4:c.777G>A, XM_011518556.3:c.777G>A, XM_011518556.2:c.777G>A, XM_011518556.1:c.777G>A, XM_047423244.1:c.777G>A, XM_047423245.1:c.777G>A

Select item 14842170238.

rs1484217023 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCACCCCGGTG>- [Show Flanks]
Chromosome:: 9:123373470 (GRCh38)
9:126135749 (GRCh37)
Canonical SPDI:: NC_000009.12:123373465:GGTGCCGCCACCCCGGTG:GGTG
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.123373470_123373483del, NC_000009.11:g.126135749_126135762del, NG_051311.1:g.24406_24419del, NM_173689.7:c.2939_2952del, NM_173689.6:c.2939_2952del, NM_173689.5:c.2939_2952del, NR_104603.2:n.2053_2066del, NR_104603.1:n.2053_2066del, XM_011518558.4:c.2744_2757del, XM_011518558.3:c.2744_2757del, XM_011518558.2:c.2744_2757del, XM_011518558.1:c.2744_2757del, XM_011518557.4:c.2744_2757del, XM_011518557.3:c.2744_2757del, XM_011518557.2:c.2744_2757del, XM_011518557.1:c.2744_2757del, XM_011518556.4:c.2912_2925del, XM_011518556.3:c.2912_2925del, XM_011518556.2:c.2912_2925del, XM_011518556.1:c.2912_2925del, XM_005251934.4:c.1943_1956del, XM_005251934.3:c.1943_1956del, XM_005251934.2:c.1943_1956del, XM_005251934.1:c.1943_1956del, XM_047423244.1:c.2825_2838del, XM_047423245.1:c.2798_2811del, NP_775960.4:p.Ala980fs, XP_011516860.1:p.Ala915fs, XP_011516859.1:p.Ala915fs, XP_011516858.1:p.Ala971fs, XP_005251991.1:p.Ala648fs, XP_047279200.1:p.Ala942fs, XP_047279201.1:p.Ala933fs

Select item 14839452299.

rs1483945229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123373568 (GRCh38)
9:126135847 (GRCh37)
Canonical SPDI:: NC_000009.12:123373567:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000009.12:g.123373568T>C, NC_000009.11:g.126135847T>C, NG_051311.1:g.24504T>C, NM_173689.7:c.3037T>C, NM_173689.6:c.3037T>C, NM_173689.5:c.3037T>C, NR_104603.2:n.2151T>C, NR_104603.1:n.2151T>C, XM_011518558.4:c.2842T>C, XM_011518558.3:c.2842T>C, XM_011518558.2:c.2842T>C, XM_011518558.1:c.2842T>C, XM_011518557.4:c.2842T>C, XM_011518557.3:c.2842T>C, XM_011518557.2:c.2842T>C, XM_011518557.1:c.2842T>C, XM_011518556.4:c.3010T>C, XM_011518556.3:c.3010T>C, XM_011518556.2:c.3010T>C, XM_011518556.1:c.3010T>C, XM_005251934.4:c.2041T>C, XM_005251934.3:c.2041T>C, XM_005251934.2:c.2041T>C, XM_005251934.1:c.2041T>C, XM_047423244.1:c.2923T>C, XM_047423245.1:c.2896T>C, NP_775960.4:p.Cys1013Arg, XP_011516860.1:p.Cys948Arg, XP_011516859.1:p.Cys948Arg, XP_011516858.1:p.Cys1004Arg, XP_005251991.1:p.Cys681Arg, XP_047279200.1:p.Cys975Arg, XP_047279201.1:p.Cys966Arg

Select item 148392721710.

rs1483927217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123370432 (GRCh38)
9:126132711 (GRCh37)
Canonical SPDI:: NC_000009.12:123370431:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.123370432G>A, NC_000009.11:g.126132711G>A, NG_051311.1:g.21368G>A, NM_173689.7:c.1379G>A, NM_173689.6:c.1379G>A, NM_173689.5:c.1379G>A, NR_104603.2:n.493G>A, NR_104603.1:n.493G>A, XM_011518558.4:c.1184G>A, XM_011518558.3:c.1184G>A, XM_011518558.2:c.1184G>A, XM_011518558.1:c.1184G>A, XM_011518557.4:c.1184G>A, XM_011518557.3:c.1184G>A, XM_011518557.2:c.1184G>A, XM_011518557.1:c.1184G>A, XM_011518556.4:c.1379G>A, XM_011518556.3:c.1379G>A, XM_011518556.2:c.1379G>A, XM_011518556.1:c.1379G>A, XM_005251934.4:c.383G>A, XM_005251934.3:c.383G>A, XM_005251934.2:c.383G>A, XM_005251934.1:c.383G>A, XM_047423244.1:c.1265G>A, XM_047423245.1:c.1265G>A, NP_775960.4:p.Gly460Asp, XP_011516860.1:p.Gly395Asp, XP_011516859.1:p.Gly395Asp, XP_011516858.1:p.Gly460Asp, XP_005251991.1:p.Gly128Asp, XP_047279200.1:p.Gly422Asp, XP_047279201.1:p.Gly422Asp

Select item 148167351311.

rs1481673513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:123372306 (GRCh38)
9:126134585 (GRCh37)
Canonical SPDI:: NC_000009.12:123372305:C:T
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123372306C>T, NC_000009.11:g.126134585C>T, NG_051311.1:g.23242C>T, NM_173689.7:c.2566C>T, NM_173689.6:c.2566C>T, NM_173689.5:c.2566C>T, NR_104603.2:n.1680C>T, NR_104603.1:n.1680C>T, XM_011518558.4:c.2371C>T, XM_011518558.3:c.2371C>T, XM_011518558.2:c.2371C>T, XM_011518558.1:c.2371C>T, XM_011518557.4:c.2371C>T, XM_011518557.3:c.2371C>T, XM_011518557.2:c.2371C>T, XM_011518557.1:c.2371C>T, XM_011518556.4:c.2566C>T, XM_011518556.3:c.2566C>T, XM_011518556.2:c.2566C>T, XM_011518556.1:c.2566C>T, XM_005251934.4:c.1570C>T, XM_005251934.3:c.1570C>T, XM_005251934.2:c.1570C>T, XM_005251934.1:c.1570C>T, XM_047423244.1:c.2452C>T, XM_047423245.1:c.2452C>T, NP_775960.4:p.Pro856Ser, XP_011516860.1:p.Pro791Ser, XP_011516859.1:p.Pro791Ser, XP_011516858.1:p.Pro856Ser, XP_005251991.1:p.Pro524Ser, XP_047279200.1:p.Pro818Ser, XP_047279201.1:p.Pro818Ser

Select item 148145421812.

rs1481454218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:123366045 (GRCh38)
9:126128324 (GRCh37)
Canonical SPDI:: NC_000009.12:123366044:C:G
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.123366045C>G, NC_000009.11:g.126128324C>G, NG_051311.1:g.16981C>G, NM_173689.7:c.547C>G, NM_173689.6:c.547C>G, NM_173689.5:c.547C>G, XM_011518558.4:c.352C>G, XM_011518558.3:c.352C>G, XM_011518558.2:c.352C>G, XM_011518558.1:c.352C>G, XM_011518557.4:c.352C>G, XM_011518557.3:c.352C>G, XM_011518557.2:c.352C>G, XM_011518557.1:c.352C>G, XM_011518556.4:c.547C>G, XM_011518556.3:c.547C>G, XM_011518556.2:c.547C>G, XM_011518556.1:c.547C>G, XM_047423244.1:c.547C>G, XM_047423245.1:c.547C>G, NP_775960.4:p.Leu183Val, XP_011516860.1:p.Leu118Val, XP_011516859.1:p.Leu118Val, XP_011516858.1:p.Leu183Val, XP_047279200.1:p.Leu183Val, XP_047279201.1:p.Leu183Val

Select item 148124145013.

rs1481241450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:123376843 (GRCh38)
9:126139122 (GRCh37)
Canonical SPDI:: NC_000009.12:123376842:C:T
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.123376843C>T, NC_000009.11:g.126139122C>T, NG_051311.1:g.27779C>T, NM_173689.7:c.3639C>T, NM_173689.6:c.3639C>T, NM_173689.5:c.3639C>T, NR_104603.2:n.2753C>T, NR_104603.1:n.2753C>T, XM_011518558.4:c.3444C>T, XM_011518558.3:c.3444C>T, XM_011518558.2:c.3444C>T, XM_011518558.1:c.3444C>T, XM_011518557.4:c.3444C>T, XM_011518557.3:c.3444C>T, XM_011518557.2:c.3444C>T, XM_011518557.1:c.3444C>T, XM_011518556.4:c.3612C>T, XM_011518556.3:c.3612C>T, XM_011518556.2:c.3612C>T, XM_011518556.1:c.3612C>T, XM_005251934.4:c.2643C>T, XM_005251934.3:c.2643C>T, XM_005251934.2:c.2643C>T, XM_005251934.1:c.2643C>T, XM_047423244.1:c.3525C>T, XM_047423245.1:c.3498C>T

Select item 148023913714.

rs1480239137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123367575 (GRCh38)
9:126129854 (GRCh37)
Canonical SPDI:: NC_000009.12:123367574:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.123367575G>A, NC_000009.11:g.126129854G>A, NG_051311.1:g.18511G>A, NM_173689.7:c.943G>A, NM_173689.6:c.943G>A, NM_173689.5:c.943G>A, XM_011518558.4:c.748G>A, XM_011518558.3:c.748G>A, XM_011518558.2:c.748G>A, XM_011518558.1:c.748G>A, XM_011518557.4:c.748G>A, XM_011518557.3:c.748G>A, XM_011518557.2:c.748G>A, XM_011518557.1:c.748G>A, XM_011518556.4:c.943G>A, XM_011518556.3:c.943G>A, XM_011518556.2:c.943G>A, XM_011518556.1:c.943G>A, NP_775960.4:p.Ala315Thr, XP_011516860.1:p.Ala250Thr, XP_011516859.1:p.Ala250Thr, XP_011516858.1:p.Ala315Thr

Select item 147958662615.

rs1479586626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123373545 (GRCh38)
9:126135824 (GRCh37)
Canonical SPDI:: NC_000009.12:123373544:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.123373545T>C, NC_000009.11:g.126135824T>C, NG_051311.1:g.24481T>C, NM_173689.7:c.3014T>C, NM_173689.6:c.3014T>C, NM_173689.5:c.3014T>C, NR_104603.2:n.2128T>C, NR_104603.1:n.2128T>C, XM_011518558.4:c.2819T>C, XM_011518558.3:c.2819T>C, XM_011518558.2:c.2819T>C, XM_011518558.1:c.2819T>C, XM_011518557.4:c.2819T>C, XM_011518557.3:c.2819T>C, XM_011518557.2:c.2819T>C, XM_011518557.1:c.2819T>C, XM_011518556.4:c.2987T>C, XM_011518556.3:c.2987T>C, XM_011518556.2:c.2987T>C, XM_011518556.1:c.2987T>C, XM_005251934.4:c.2018T>C, XM_005251934.3:c.2018T>C, XM_005251934.2:c.2018T>C, XM_005251934.1:c.2018T>C, XM_047423244.1:c.2900T>C, XM_047423245.1:c.2873T>C, NP_775960.4:p.Leu1005Pro, XP_011516860.1:p.Leu940Pro, XP_011516859.1:p.Leu940Pro, XP_011516858.1:p.Leu996Pro, XP_005251991.1:p.Leu673Pro, XP_047279200.1:p.Leu967Pro, XP_047279201.1:p.Leu958Pro

Select item 147939850516.

rs1479398505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:123366287 (GRCh38)
9:126128566 (GRCh37)
Canonical SPDI:: NC_000009.12:123366286:G:A
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.123366287G>A, NC_000009.11:g.126128566G>A, NG_051311.1:g.17223G>A, NM_173689.7:c.675G>A, NM_173689.6:c.675G>A, NM_173689.5:c.675G>A, XM_011518558.4:c.480G>A, XM_011518558.3:c.480G>A, XM_011518558.2:c.480G>A, XM_011518558.1:c.480G>A, XM_011518557.4:c.480G>A, XM_011518557.3:c.480G>A, XM_011518557.2:c.480G>A, XM_011518557.1:c.480G>A, XM_011518556.4:c.675G>A, XM_011518556.3:c.675G>A, XM_011518556.2:c.675G>A, XM_011518556.1:c.675G>A, XM_047423244.1:c.675G>A, XM_047423245.1:c.675G>A

Select item 147934796617.

rs1479347966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:123367618 (GRCh38)
9:126129897 (GRCh37)
Canonical SPDI:: NC_000009.12:123367617:G:T
Gene:: CRB2 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.123367618G>T, NC_000009.11:g.126129897G>T, NG_051311.1:g.18554G>T, NM_173689.7:c.986G>T, NM_173689.6:c.986G>T, NM_173689.5:c.986G>T, XM_011518558.4:c.791G>T, XM_011518558.3:c.791G>T, XM_011518558.2:c.791G>T, XM_011518558.1:c.791G>T, XM_011518557.4:c.791G>T, XM_011518557.3:c.791G>T, XM_011518557.2:c.791G>T, XM_011518557.1:c.791G>T, XM_011518556.4:c.986G>T, XM_011518556.3:c.986G>T, XM_011518556.2:c.986G>T, XM_011518556.1:c.986G>T, NP_775960.4:p.Cys329Phe, XP_011516860.1:p.Cys264Phe, XP_011516859.1:p.Cys264Phe, XP_011516858.1:p.Cys329Phe

Select item 147927593518.

rs1479275935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123373292 (GRCh38)
9:126135571 (GRCh37)
Canonical SPDI:: NC_000009.12:123373291:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.123373292T>C, NC_000009.11:g.126135571T>C, NG_051311.1:g.24228T>C, NM_173689.7:c.2761T>C, NM_173689.6:c.2761T>C, NM_173689.5:c.2761T>C, NR_104603.2:n.1875T>C, NR_104603.1:n.1875T>C, XM_011518558.4:c.2566T>C, XM_011518558.3:c.2566T>C, XM_011518558.2:c.2566T>C, XM_011518558.1:c.2566T>C, XM_011518557.4:c.2566T>C, XM_011518557.3:c.2566T>C, XM_011518557.2:c.2566T>C, XM_011518557.1:c.2566T>C, XM_011518556.4:c.2734T>C, XM_011518556.3:c.2734T>C, XM_011518556.2:c.2734T>C, XM_011518556.1:c.2734T>C, XM_005251934.4:c.1765T>C, XM_005251934.3:c.1765T>C, XM_005251934.2:c.1765T>C, XM_005251934.1:c.1765T>C, XM_047423244.1:c.2647T>C, XM_047423245.1:c.2620T>C, NP_775960.4:p.Trp921Arg, XP_011516860.1:p.Trp856Arg, XP_011516859.1:p.Trp856Arg, XP_011516858.1:p.Trp912Arg, XP_005251991.1:p.Trp589Arg, XP_047279200.1:p.Trp883Arg, XP_047279201.1:p.Trp874Arg

Select item 147919714319.

rs1479197143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:123371119 (GRCh38)
9:126133398 (GRCh37)
Canonical SPDI:: NC_000009.12:123371118:C:G
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_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_000009.12:g.123371119C>G, NC_000009.11:g.126133398C>G, NG_051311.1:g.22055C>G, NM_173689.7:c.1977C>G, NM_173689.6:c.1977C>G, NM_173689.5:c.1977C>G, NR_104603.2:n.1091C>G, NR_104603.1:n.1091C>G, XM_011518558.4:c.1782C>G, XM_011518558.3:c.1782C>G, XM_011518558.2:c.1782C>G, XM_011518558.1:c.1782C>G, XM_011518557.4:c.1782C>G, XM_011518557.3:c.1782C>G, XM_011518557.2:c.1782C>G, XM_011518557.1:c.1782C>G, XM_011518556.4:c.1977C>G, XM_011518556.3:c.1977C>G, XM_011518556.2:c.1977C>G, XM_011518556.1:c.1977C>G, XM_005251934.4:c.981C>G, XM_005251934.3:c.981C>G, XM_005251934.2:c.981C>G, XM_005251934.1:c.981C>G, XM_047423244.1:c.1863C>G, XM_047423245.1:c.1863C>G

Select item 147790099620.

rs1477900996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:123367328 (GRCh38)
9:126129607 (GRCh37)
Canonical SPDI:: NC_000009.12:123367327:T:C
Gene:: CRB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.123367328T>C, NC_000009.11:g.126129607T>C, NG_051311.1:g.18264T>C, NM_173689.7:c.911T>C, NM_173689.6:c.911T>C, NM_173689.5:c.911T>C, XM_011518558.4:c.716T>C, XM_011518558.3:c.716T>C, XM_011518558.2:c.716T>C, XM_011518558.1:c.716T>C, XM_011518557.4:c.716T>C, XM_011518557.3:c.716T>C, XM_011518557.2:c.716T>C, XM_011518557.1:c.716T>C, XM_011518556.4:c.911T>C, XM_011518556.3:c.911T>C, XM_011518556.2:c.911T>C, XM_011518556.1:c.911T>C, XM_047423244.1:c.911T>C, XM_047423245.1:c.911T>C, NP_775960.4:p.Phe304Ser, XP_011516860.1:p.Phe239Ser, XP_011516859.1:p.Phe239Ser, XP_011516858.1:p.Phe304Ser, XP_047279200.1:p.Phe304Ser, XP_047279201.1:p.Phe304Ser

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 1000

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