SNP Links for Protein (Select 141802362) - SNP

Links from Protein

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Select item 14896481931.

rs1489648193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:26311156 (GRCh38)
2:26534024 (GRCh37)
Canonical SPDI:: NC_000002.12:26311155:A:G
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.26311156A>G, NC_000002.11:g.26534024A>G, NM_153835.4:c.1975T>C, NM_153835.3:c.1975T>C, XM_011532621.4:c.2395T>C, XM_011532621.3:c.2395T>C, XM_011532621.2:c.2395T>C, XM_011532621.1:c.2395T>C, XM_011532623.3:c.2347T>C, XM_011532623.2:c.2347T>C, XM_011532623.1:c.2347T>C, XM_011532622.3:c.2365T>C, XM_011532622.2:c.2365T>C, XM_011532622.1:c.2365T>C, NM_001321971.2:c.2368T>C, NM_001321971.1:c.2368T>C, NM_001321975.2:c.1381T>C, NM_001321975.1:c.1381T>C, NR_135916.2:n.2530T>C, NR_135916.1:n.2558T>C, NR_171657.1:n.3192T>C, NM_001145169.1:c.2365T>C, NR_171656.1:n.2923T>C, XM_047443563.1:c.2368T>C, XM_047443565.1:c.2338T>C, XM_047443564.1:c.2347T>C, NM_001393343.1:c.1381T>C, NM_001145168.1:c.2572T>C, NP_722577.2:p.Trp659Arg, XP_011530923.1:p.Trp799Arg, XP_011530925.1:p.Trp783Arg, XP_011530924.1:p.Trp789Arg, NP_001308900.1:p.Trp790Arg, NP_001308904.1:p.Trp461Arg, NP_001138641.1:p.Trp789Arg, XP_047299519.1:p.Trp790Arg, XP_047299521.1:p.Trp780Arg, XP_047299520.1:p.Trp783Arg, NP_001380272.1:p.Trp461Arg, NP_001138640.1:p.Trp858Arg

Select item 14896135292.

rs1489613529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:26311760 (GRCh38)
2:26534628 (GRCh37)
Canonical SPDI:: NC_000002.12:26311759:G:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26311760G>T, NC_000002.11:g.26534628G>T, NM_153835.4:c.1371C>A, NM_153835.3:c.1371C>A, XM_011532621.4:c.1791C>A, XM_011532621.3:c.1791C>A, XM_011532621.2:c.1791C>A, XM_011532621.1:c.1791C>A, XM_011532623.3:c.1743C>A, XM_011532623.2:c.1743C>A, XM_011532623.1:c.1743C>A, XM_011532622.3:c.1761C>A, XM_011532622.2:c.1761C>A, XM_011532622.1:c.1761C>A, NM_001321971.2:c.1764C>A, NM_001321971.1:c.1764C>A, NM_001321975.2:c.777C>A, NM_001321975.1:c.777C>A, NR_135916.2:n.1926C>A, NR_135916.1:n.1954C>A, NR_171657.1:n.2588C>A, NM_001145169.1:c.1761C>A, NR_171656.1:n.2319C>A, XM_047443563.1:c.1764C>A, XM_047443565.1:c.1734C>A, XM_047443564.1:c.1743C>A, NM_001393343.1:c.777C>A, NM_001145168.1:c.1968C>A, NP_722577.2:p.Ser457Arg, XP_011530923.1:p.Ser597Arg, XP_011530925.1:p.Ser581Arg, XP_011530924.1:p.Ser587Arg, NP_001308900.1:p.Ser588Arg, NP_001308904.1:p.Ser259Arg, NP_001138641.1:p.Ser587Arg, XP_047299519.1:p.Ser588Arg, XP_047299521.1:p.Ser578Arg, XP_047299520.1:p.Ser581Arg, NP_001380272.1:p.Ser259Arg, NP_001138640.1:p.Ser656Arg

Select item 14892523783.

rs1489252378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:26317504 (GRCh38)
2:26540372 (GRCh37)
Canonical SPDI:: NC_000002.12:26317503:C:G
Gene:: ADGRF3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26317504C>G, NC_000002.11:g.26540372C>G, NM_153835.4:c.173G>C, NM_153835.3:c.173G>C, XM_011532621.4:c.173G>C, XM_011532621.3:c.173G>C, XM_011532621.2:c.173G>C, XM_011532621.1:c.173G>C, XM_011532623.3:c.125G>C, XM_011532623.2:c.125G>C, XM_011532623.1:c.125G>C, XM_011532622.3:c.143G>C, XM_011532622.2:c.143G>C, XM_011532622.1:c.143G>C, NM_001321971.2:c.173G>C, NM_001321971.1:c.173G>C, NM_001321975.2:c.-921G>C, NM_001321975.1:c.-921G>C, NR_135916.2:n.728G>C, NR_135916.1:n.756G>C, NR_171657.1:n.970G>C, NM_001145169.1:c.143G>C, NR_171656.1:n.728G>C, XM_047443563.1:c.173G>C, XM_047443565.1:c.143G>C, XM_047443564.1:c.125G>C, NM_001145168.1:c.350G>C, NP_722577.2:p.Gly58Ala, XP_011530923.1:p.Gly58Ala, XP_011530925.1:p.Gly42Ala, XP_011530924.1:p.Gly48Ala, NP_001308900.1:p.Gly58Ala, NP_001138641.1:p.Gly48Ala, XP_047299519.1:p.Gly58Ala, XP_047299521.1:p.Gly48Ala, XP_047299520.1:p.Gly42Ala, NP_001138640.1:p.Gly117Ala

Select item 14882422844.

rs1488242284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:26311169 (GRCh38)
2:26534037 (GRCh37)
Canonical SPDI:: NC_000002.12:26311168:C:G
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.26311169C>G, NC_000002.11:g.26534037C>G, NM_153835.4:c.1962G>C, NM_153835.3:c.1962G>C, XM_011532621.4:c.2382G>C, XM_011532621.3:c.2382G>C, XM_011532621.2:c.2382G>C, XM_011532621.1:c.2382G>C, XM_011532623.3:c.2334G>C, XM_011532623.2:c.2334G>C, XM_011532623.1:c.2334G>C, XM_011532622.3:c.2352G>C, XM_011532622.2:c.2352G>C, XM_011532622.1:c.2352G>C, NM_001321971.2:c.2355G>C, NM_001321971.1:c.2355G>C, NM_001321975.2:c.1368G>C, NM_001321975.1:c.1368G>C, NR_135916.2:n.2517G>C, NR_135916.1:n.2545G>C, NR_171657.1:n.3179G>C, NM_001145169.1:c.2352G>C, NR_171656.1:n.2910G>C, XM_047443563.1:c.2355G>C, XM_047443565.1:c.2325G>C, XM_047443564.1:c.2334G>C, NM_001393343.1:c.1368G>C, NM_001145168.1:c.2559G>C

Select item 14869257815.

rs1486925781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26316942 (GRCh38)
2:26539810 (GRCh37)
Canonical SPDI:: NC_000002.12:26316941:G:A
Gene:: ADGRF3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26316942G>A, NC_000002.11:g.26539810G>A, NM_153835.4:c.295C>T, NM_153835.3:c.295C>T, XM_011532621.4:c.295C>T, XM_011532621.3:c.295C>T, XM_011532621.2:c.295C>T, XM_011532621.1:c.295C>T, XM_011532623.3:c.247C>T, XM_011532623.2:c.247C>T, XM_011532623.1:c.247C>T, XM_011532622.3:c.265C>T, XM_011532622.2:c.265C>T, XM_011532622.1:c.265C>T, NM_001321971.2:c.295C>T, NM_001321971.1:c.295C>T, NM_001321975.2:c.-799C>T, NM_001321975.1:c.-799C>T, NR_135916.2:n.850C>T, NR_135916.1:n.878C>T, NR_171657.1:n.1092C>T, NM_001145169.1:c.265C>T, NR_171656.1:n.850C>T, XM_047443563.1:c.295C>T, XM_047443565.1:c.265C>T, XM_047443564.1:c.247C>T, NM_001145168.1:c.472C>T, NP_722577.2:p.Pro99Ser, XP_011530923.1:p.Pro99Ser, XP_011530925.1:p.Pro83Ser, XP_011530924.1:p.Pro89Ser, NP_001308900.1:p.Pro99Ser, NP_001138641.1:p.Pro89Ser, XP_047299519.1:p.Pro99Ser, XP_047299521.1:p.Pro89Ser, XP_047299520.1:p.Pro83Ser, NP_001138640.1:p.Pro158Ser

Select item 14831422626.

rs1483142262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:26309100 (GRCh38)
2:26531968 (GRCh37)
Canonical SPDI:: NC_000002.12:26309099:C:G
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26309100C>G, NC_000002.11:g.26531968C>G, NM_153835.4:c.2608G>C, NM_153835.3:c.2608G>C, XR_939853.3:n.5217C>G, XR_939853.2:n.5217C>G, XR_939853.1:n.5214C>G, XR_939854.3:n.5217C>G, XR_939854.2:n.5217C>G, XR_939854.1:n.5214C>G, XR_939855.3:n.1223C>G, XR_939855.2:n.1223C>G, XR_939855.1:n.1220C>G, XR_002959376.2:n.5217C>G, XR_002959376.1:n.5217C>G, NM_001321971.2:c.3001G>C, NM_001321971.1:c.3001G>C, NM_001321975.2:c.2014G>C, NM_001321975.1:c.2014G>C, NR_135916.2:n.3163G>C, NR_135916.1:n.3191G>C, NR_171657.1:n.3825G>C, NM_001145169.1:c.*422G>C, NR_171656.1:n.3556G>C, XM_047443565.1:c.2971G>C, NM_001393343.1:c.2014G>C, XR_007086250.1:n.1320C>G, NP_722577.2:p.Asp870His, NP_001308900.1:p.Asp1001His, NP_001308904.1:p.Asp672His, XP_047299521.1:p.Asp991His, NP_001380272.1:p.Asp672His

Select item 14819421097.

rs1481942109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:26311518 (GRCh38)
2:26534386 (GRCh37)
Canonical SPDI:: NC_000002.12:26311517:T:C,NC_000002.12:26311517:T:G
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0011/2 (Korea1K)
HGVS:: NC_000002.12:g.26311518T>C, NC_000002.12:g.26311518T>G, NC_000002.11:g.26534386T>C, NC_000002.11:g.26534386T>G, NM_153835.4:c.1613A>G, NM_153835.4:c.1613A>C, NM_153835.3:c.1613A>G, NM_153835.3:c.1613A>C, XM_011532621.4:c.2033A>G, XM_011532621.4:c.2033A>C, XM_011532621.3:c.2033A>G, XM_011532621.3:c.2033A>C, XM_011532621.2:c.2033A>G, XM_011532621.2:c.2033A>C, XM_011532621.1:c.2033A>G, XM_011532621.1:c.2033A>C, XM_011532623.3:c.1985A>G, XM_011532623.3:c.1985A>C, XM_011532623.2:c.1985A>G, XM_011532623.2:c.1985A>C, XM_011532623.1:c.1985A>G, XM_011532623.1:c.1985A>C, XM_011532622.3:c.2003A>G, XM_011532622.3:c.2003A>C, XM_011532622.2:c.2003A>G, XM_011532622.2:c.2003A>C, XM_011532622.1:c.2003A>G, XM_011532622.1:c.2003A>C, NM_001321971.2:c.2006A>G, NM_001321971.2:c.2006A>C, NM_001321971.1:c.2006A>G, NM_001321971.1:c.2006A>C, NM_001321975.2:c.1019A>G, NM_001321975.2:c.1019A>C, NM_001321975.1:c.1019A>G, NM_001321975.1:c.1019A>C, NR_135916.2:n.2168A>G, NR_135916.2:n.2168A>C, NR_135916.1:n.2196A>G, NR_135916.1:n.2196A>C, NR_171657.1:n.2830A>G, NR_171657.1:n.2830A>C, NM_001145169.1:c.2003A>G, NM_001145169.1:c.2003A>C, NR_171656.1:n.2561A>G, NR_171656.1:n.2561A>C, XM_047443563.1:c.2006A>G, XM_047443563.1:c.2006A>C, XM_047443565.1:c.1976A>G, XM_047443565.1:c.1976A>C, XM_047443564.1:c.1985A>G, XM_047443564.1:c.1985A>C, NM_001393343.1:c.1019A>G, NM_001393343.1:c.1019A>C, NM_001145168.1:c.2210A>G, NM_001145168.1:c.2210A>C, NP_722577.2:p.Gln538Arg, NP_722577.2:p.Gln538Pro, XP_011530923.1:p.Gln678Arg, XP_011530923.1:p.Gln678Pro, XP_011530925.1:p.Gln662Arg, XP_011530925.1:p.Gln662Pro, XP_011530924.1:p.Gln668Arg, XP_011530924.1:p.Gln668Pro, NP_001308900.1:p.Gln669Arg, NP_001308900.1:p.Gln669Pro, NP_001308904.1:p.Gln340Arg, NP_001308904.1:p.Gln340Pro, NP_001138641.1:p.Gln668Arg, NP_001138641.1:p.Gln668Pro, XP_047299519.1:p.Gln669Arg, XP_047299519.1:p.Gln669Pro, XP_047299521.1:p.Gln659Arg, XP_047299521.1:p.Gln659Pro, XP_047299520.1:p.Gln662Arg, XP_047299520.1:p.Gln662Pro, NP_001380272.1:p.Gln340Arg, NP_001380272.1:p.Gln340Pro, NP_001138640.1:p.Gln737Arg, NP_001138640.1:p.Gln737Pro

Select item 14810836568.

rs1481083656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26311392 (GRCh38)
2:26534260 (GRCh37)
Canonical SPDI:: NC_000002.12:26311391:C:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.26311392C>T, NC_000002.11:g.26534260C>T, NM_153835.4:c.1739G>A, NM_153835.3:c.1739G>A, XM_011532621.4:c.2159G>A, XM_011532621.3:c.2159G>A, XM_011532621.2:c.2159G>A, XM_011532621.1:c.2159G>A, XM_011532623.3:c.2111G>A, XM_011532623.2:c.2111G>A, XM_011532623.1:c.2111G>A, XM_011532622.3:c.2129G>A, XM_011532622.2:c.2129G>A, XM_011532622.1:c.2129G>A, NM_001321971.2:c.2132G>A, NM_001321971.1:c.2132G>A, NM_001321975.2:c.1145G>A, NM_001321975.1:c.1145G>A, NR_135916.2:n.2294G>A, NR_135916.1:n.2322G>A, NR_171657.1:n.2956G>A, NM_001145169.1:c.2129G>A, NR_171656.1:n.2687G>A, XM_047443563.1:c.2132G>A, XM_047443565.1:c.2102G>A, XM_047443564.1:c.2111G>A, NM_001393343.1:c.1145G>A, NM_001145168.1:c.2336G>A, NP_722577.2:p.Gly580Glu, XP_011530923.1:p.Gly720Glu, XP_011530925.1:p.Gly704Glu, XP_011530924.1:p.Gly710Glu, NP_001308900.1:p.Gly711Glu, NP_001308904.1:p.Gly382Glu, NP_001138641.1:p.Gly710Glu, XP_047299519.1:p.Gly711Glu, XP_047299521.1:p.Gly701Glu, XP_047299520.1:p.Gly704Glu, NP_001380272.1:p.Gly382Glu, NP_001138640.1:p.Gly779Glu

Select item 14807865319.

rs1480786531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26310834 (GRCh38)
2:26533702 (GRCh37)
Canonical SPDI:: NC_000002.12:26310833:C:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.26310834C>T, NC_000002.11:g.26533702C>T, NM_153835.4:c.2297G>A, NM_153835.3:c.2297G>A, XM_011532621.4:c.2717G>A, XM_011532621.3:c.2717G>A, XM_011532621.2:c.2717G>A, XM_011532621.1:c.2717G>A, XM_011532623.3:c.2669G>A, XM_011532623.2:c.2669G>A, XM_011532623.1:c.2669G>A, XM_011532622.3:c.2687G>A, XM_011532622.2:c.2687G>A, XM_011532622.1:c.2687G>A, NM_001321971.2:c.2690G>A, NM_001321971.1:c.2690G>A, NM_001321975.2:c.1703G>A, NM_001321975.1:c.1703G>A, NR_135916.2:n.2852G>A, NR_135916.1:n.2880G>A, NR_171657.1:n.3514G>A, NM_001145169.1:c.2687G>A, NR_171656.1:n.3245G>A, XM_047443563.1:c.2690G>A, XM_047443565.1:c.2660G>A, XM_047443564.1:c.2669G>A, NM_001393343.1:c.1703G>A, NM_001145168.1:c.2894G>A, NP_722577.2:p.Arg766His, XP_011530923.1:p.Arg906His, XP_011530925.1:p.Arg890His, XP_011530924.1:p.Arg896His, NP_001308900.1:p.Arg897His, NP_001308904.1:p.Arg568His, NP_001138641.1:p.Arg896His, XP_047299519.1:p.Arg897His, XP_047299521.1:p.Arg887His, XP_047299520.1:p.Arg890His, NP_001380272.1:p.Arg568His, NP_001138640.1:p.Arg965His

Select item 148042653010.

rs1480426530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:26311956 (GRCh38)
2:26534824 (GRCh37)
Canonical SPDI:: NC_000002.12:26311955:G:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.26311956G>T, NC_000002.11:g.26534824G>T, NM_153835.4:c.1175C>A, NM_153835.3:c.1175C>A, XM_011532621.4:c.1595C>A, XM_011532621.3:c.1595C>A, XM_011532621.2:c.1595C>A, XM_011532621.1:c.1595C>A, XM_011532623.3:c.1547C>A, XM_011532623.2:c.1547C>A, XM_011532623.1:c.1547C>A, XM_011532622.3:c.1565C>A, XM_011532622.2:c.1565C>A, XM_011532622.1:c.1565C>A, NM_001321971.2:c.1568C>A, NM_001321971.1:c.1568C>A, NM_001321975.2:c.581C>A, NM_001321975.1:c.581C>A, NR_135916.2:n.1730C>A, NR_135916.1:n.1758C>A, NR_171657.1:n.2392C>A, NM_001145169.1:c.1565C>A, NR_171656.1:n.2123C>A, XM_047443563.1:c.1568C>A, XM_047443565.1:c.1538C>A, XM_047443564.1:c.1547C>A, NM_001393343.1:c.581C>A, NM_001145168.1:c.1772C>A, NP_722577.2:p.Ala392Glu, XP_011530923.1:p.Ala532Glu, XP_011530925.1:p.Ala516Glu, XP_011530924.1:p.Ala522Glu, NP_001308900.1:p.Ala523Glu, NP_001308904.1:p.Ala194Glu, NP_001138641.1:p.Ala522Glu, XP_047299519.1:p.Ala523Glu, XP_047299521.1:p.Ala513Glu, XP_047299520.1:p.Ala516Glu, NP_001380272.1:p.Ala194Glu, NP_001138640.1:p.Ala591Glu

Select item 147722461811.

rs1477224618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:26313786 (GRCh38)
2:26536654 (GRCh37)
Canonical SPDI:: NC_000002.12:26313785:A:G
Gene:: ADGRF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.26313786A>G, NC_000002.11:g.26536654A>G, NM_153835.4:c.653T>C, NM_153835.3:c.653T>C, XM_011532621.4:c.1073T>C, XM_011532621.3:c.1073T>C, XM_011532621.2:c.1073T>C, XM_011532621.1:c.1073T>C, XM_011532623.3:c.1025T>C, XM_011532623.2:c.1025T>C, XM_011532623.1:c.1025T>C, XM_011532622.3:c.1043T>C, XM_011532622.2:c.1043T>C, XM_011532622.1:c.1043T>C, NM_001321971.2:c.1046T>C, NM_001321971.1:c.1046T>C, NM_001321975.2:c.59T>C, NM_001321975.1:c.59T>C, NR_135916.2:n.1208T>C, NR_135916.1:n.1236T>C, NR_171657.1:n.1870T>C, NM_001145169.1:c.1043T>C, NR_171656.1:n.1601T>C, XM_047443563.1:c.1046T>C, XM_047443565.1:c.1016T>C, XM_047443564.1:c.1025T>C, NM_001393343.1:c.59T>C, NM_001145168.1:c.1250T>C, NP_722577.2:p.Val218Ala, XP_011530923.1:p.Val358Ala, XP_011530925.1:p.Val342Ala, XP_011530924.1:p.Val348Ala, NP_001308900.1:p.Val349Ala, NP_001308904.1:p.Val20Ala, NP_001138641.1:p.Val348Ala, XP_047299519.1:p.Val349Ala, XP_047299521.1:p.Val339Ala, XP_047299520.1:p.Val342Ala, NP_001380272.1:p.Val20Ala, NP_001138640.1:p.Val417Ala

Select item 147714906912.

rs1477149069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:26313459 (GRCh38)
2:26536327 (GRCh37)
Canonical SPDI:: NC_000002.12:26313458:A:C,NC_000002.12:26313458:A:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.26313459A>C, NC_000002.12:g.26313459A>T, NC_000002.11:g.26536327A>C, NC_000002.11:g.26536327A>T, NM_153835.4:c.794T>G, NM_153835.4:c.794T>A, NM_153835.3:c.794T>G, NM_153835.3:c.794T>A, XM_011532621.4:c.1214T>G, XM_011532621.4:c.1214T>A, XM_011532621.3:c.1214T>G, XM_011532621.3:c.1214T>A, XM_011532621.2:c.1214T>G, XM_011532621.2:c.1214T>A, XM_011532621.1:c.1214T>G, XM_011532621.1:c.1214T>A, XM_011532623.3:c.1166T>G, XM_011532623.3:c.1166T>A, XM_011532623.2:c.1166T>G, XM_011532623.2:c.1166T>A, XM_011532623.1:c.1166T>G, XM_011532623.1:c.1166T>A, XM_011532622.3:c.1184T>G, XM_011532622.3:c.1184T>A, XM_011532622.2:c.1184T>G, XM_011532622.2:c.1184T>A, XM_011532622.1:c.1184T>G, XM_011532622.1:c.1184T>A, NM_001321971.2:c.1187T>G, NM_001321971.2:c.1187T>A, NM_001321971.1:c.1187T>G, NM_001321971.1:c.1187T>A, NM_001321975.2:c.200T>G, NM_001321975.2:c.200T>A, NM_001321975.1:c.200T>G, NM_001321975.1:c.200T>A, NR_135916.2:n.1349T>G, NR_135916.2:n.1349T>A, NR_135916.1:n.1377T>G, NR_135916.1:n.1377T>A, NR_171657.1:n.2011T>G, NR_171657.1:n.2011T>A, NM_001145169.1:c.1184T>G, NM_001145169.1:c.1184T>A, NR_171656.1:n.1742T>G, NR_171656.1:n.1742T>A, XM_047443563.1:c.1187T>G, XM_047443563.1:c.1187T>A, XM_047443565.1:c.1157T>G, XM_047443565.1:c.1157T>A, XM_047443564.1:c.1166T>G, XM_047443564.1:c.1166T>A, NM_001393343.1:c.200T>G, NM_001393343.1:c.200T>A, NM_001145168.1:c.1391T>G, NM_001145168.1:c.1391T>A, NP_722577.2:p.Leu265Arg, NP_722577.2:p.Leu265His, XP_011530923.1:p.Leu405Arg, XP_011530923.1:p.Leu405His, XP_011530925.1:p.Leu389Arg, XP_011530925.1:p.Leu389His, XP_011530924.1:p.Leu395Arg, XP_011530924.1:p.Leu395His, NP_001308900.1:p.Leu396Arg, NP_001308900.1:p.Leu396His, NP_001308904.1:p.Leu67Arg, NP_001308904.1:p.Leu67His, NP_001138641.1:p.Leu395Arg, NP_001138641.1:p.Leu395His, XP_047299519.1:p.Leu396Arg, XP_047299519.1:p.Leu396His, XP_047299521.1:p.Leu386Arg, XP_047299521.1:p.Leu386His, XP_047299520.1:p.Leu389Arg, XP_047299520.1:p.Leu389His, NP_001380272.1:p.Leu67Arg, NP_001380272.1:p.Leu67His, NP_001138640.1:p.Leu464Arg, NP_001138640.1:p.Leu464His

Select item 147594952413.

rs1475949524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26310770 (GRCh38)
2:26533638 (GRCh37)
Canonical SPDI:: NC_000002.12:26310769:C:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
T=0.00034/1 (KOREAN)
T=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.26310770C>T, NC_000002.11:g.26533638C>T, NM_153835.4:c.2361G>A, NM_153835.3:c.2361G>A, XM_011532621.4:c.2781G>A, XM_011532621.3:c.2781G>A, XM_011532621.2:c.2781G>A, XM_011532621.1:c.2781G>A, XM_011532623.3:c.2733G>A, XM_011532623.2:c.2733G>A, XM_011532623.1:c.2733G>A, XM_011532622.3:c.2751G>A, XM_011532622.2:c.2751G>A, XM_011532622.1:c.2751G>A, NM_001321971.2:c.2754G>A, NM_001321971.1:c.2754G>A, NM_001321975.2:c.1767G>A, NM_001321975.1:c.1767G>A, NR_135916.2:n.2916G>A, NR_135916.1:n.2944G>A, NR_171657.1:n.3578G>A, NM_001145169.1:c.2751G>A, NR_171656.1:n.3309G>A, XM_047443563.1:c.2754G>A, XM_047443565.1:c.2724G>A, XM_047443564.1:c.2733G>A, NM_001393343.1:c.1767G>A, NM_001145168.1:c.2958G>A, NP_722577.2:p.Trp787Ter, XP_011530923.1:p.Trp927Ter, XP_011530925.1:p.Trp911Ter, XP_011530924.1:p.Trp917Ter, NP_001308900.1:p.Trp918Ter, NP_001308904.1:p.Trp589Ter, NP_001138641.1:p.Trp917Ter, XP_047299519.1:p.Trp918Ter, XP_047299521.1:p.Trp908Ter, XP_047299520.1:p.Trp911Ter, NP_001380272.1:p.Trp589Ter, NP_001138640.1:p.Trp986Ter

Select item 147551998114.

rs1475519981 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:26313853 (GRCh38)
2:26536721 (GRCh37)
Canonical SPDI:: NC_000002.12:26313850:GCGC:GC
Gene:: ADGRF3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26313851GC[1], NC_000002.11:g.26536719GC[1], NM_153835.4:c.587_588del, NM_153835.3:c.587_588del, XM_011532621.4:c.1007_1008del, XM_011532621.3:c.1007_1008del, XM_011532621.2:c.1007_1008del, XM_011532621.1:c.1007_1008del, XM_011532623.3:c.959_960del, XM_011532623.2:c.959_960del, XM_011532623.1:c.959_960del, XM_011532622.3:c.977_978del, XM_011532622.2:c.977_978del, XM_011532622.1:c.977_978del, NM_001321971.2:c.980_981del, NM_001321971.1:c.980_981del, NM_001321975.2:c.-10GC[1], NM_001321975.1:c.-10GC[1], NR_135916.2:n.1140GC[1], NR_135916.1:n.1168GC[1], NR_171657.1:n.1802GC[1], NM_001145169.1:c.977_978del, NR_171656.1:n.1533GC[1], XM_047443563.1:c.980_981del, XM_047443565.1:c.950_951del, XM_047443564.1:c.959_960del, NM_001393343.1:c.-10GC[1], NM_001145168.1:c.1184_1185del, NP_722577.2:p.Arg196fs, XP_011530923.1:p.Arg336fs, XP_011530925.1:p.Arg320fs, XP_011530924.1:p.Arg326fs, NP_001308900.1:p.Arg327fs, NP_001138641.1:p.Arg326fs, XP_047299519.1:p.Arg327fs, XP_047299521.1:p.Arg317fs, XP_047299520.1:p.Arg320fs, NP_001138640.1:p.Arg395fs

Select item 147488879115.

rs1474888791 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:26316947 (GRCh38)
2:26539815 (GRCh37)
Canonical SPDI:: NC_000002.12:26316946:GGGG:GGG
Gene:: ADGRF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26316950del, NC_000002.11:g.26539818del, NM_153835.4:c.290del, NM_153835.3:c.290del, XM_011532621.4:c.290del, XM_011532621.3:c.290del, XM_011532621.2:c.290del, XM_011532621.1:c.290del, XM_011532623.3:c.242del, XM_011532623.2:c.242del, XM_011532623.1:c.242del, XM_011532622.3:c.260del, XM_011532622.2:c.260del, XM_011532622.1:c.260del, NM_001321971.2:c.290del, NM_001321971.1:c.290del, NM_001321975.2:c.-804del, NM_001321975.1:c.-804del, NR_135916.2:n.845del, NR_135916.1:n.873del, NR_171657.1:n.1087del, NM_001145169.1:c.260del, NR_171656.1:n.845del, XM_047443563.1:c.290del, XM_047443565.1:c.260del, XM_047443564.1:c.242del, NM_001145168.1:c.467del, NP_722577.2:p.Pro97fs, XP_011530923.1:p.Pro97fs, XP_011530925.1:p.Pro81fs, XP_011530924.1:p.Pro87fs, NP_001308900.1:p.Pro97fs, NP_001138641.1:p.Pro87fs, XP_047299519.1:p.Pro97fs, XP_047299521.1:p.Pro87fs, XP_047299520.1:p.Pro81fs, NP_001138640.1:p.Pro156fs

Select item 147295634516.

rs1472956345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26311597 (GRCh38)
2:26534465 (GRCh37)
Canonical SPDI:: NC_000002.12:26311596:C:T
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000283/5 (TOMMO)
HGVS:: NC_000002.12:g.26311597C>T, NC_000002.11:g.26534465C>T, NM_153835.4:c.1534G>A, NM_153835.3:c.1534G>A, XM_011532621.4:c.1954G>A, XM_011532621.3:c.1954G>A, XM_011532621.2:c.1954G>A, XM_011532621.1:c.1954G>A, XM_011532623.3:c.1906G>A, XM_011532623.2:c.1906G>A, XM_011532623.1:c.1906G>A, XM_011532622.3:c.1924G>A, XM_011532622.2:c.1924G>A, XM_011532622.1:c.1924G>A, NM_001321971.2:c.1927G>A, NM_001321971.1:c.1927G>A, NM_001321975.2:c.940G>A, NM_001321975.1:c.940G>A, NR_135916.2:n.2089G>A, NR_135916.1:n.2117G>A, NR_171657.1:n.2751G>A, NM_001145169.1:c.1924G>A, NR_171656.1:n.2482G>A, XM_047443563.1:c.1927G>A, XM_047443565.1:c.1897G>A, XM_047443564.1:c.1906G>A, NM_001393343.1:c.940G>A, NM_001145168.1:c.2131G>A, NP_722577.2:p.Gly512Ser, XP_011530923.1:p.Gly652Ser, XP_011530925.1:p.Gly636Ser, XP_011530924.1:p.Gly642Ser, NP_001308900.1:p.Gly643Ser, NP_001308904.1:p.Gly314Ser, NP_001138641.1:p.Gly642Ser, XP_047299519.1:p.Gly643Ser, XP_047299521.1:p.Gly633Ser, XP_047299520.1:p.Gly636Ser, NP_001380272.1:p.Gly314Ser, NP_001138640.1:p.Gly711Ser

Select item 147052304517.

rs1470523045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:26314464 (GRCh38)
2:26537332 (GRCh37)
Canonical SPDI:: NC_000002.12:26314463:C:T
Gene:: ADGRF3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26314464C>T, NC_000002.11:g.26537332C>T, NM_153835.4:c.485G>A, NM_153835.3:c.485G>A, XM_011532621.4:c.905G>A, XM_011532621.3:c.905G>A, XM_011532621.2:c.905G>A, XM_011532621.1:c.905G>A, XM_011532623.3:c.857G>A, XM_011532623.2:c.857G>A, XM_011532623.1:c.857G>A, XM_011532622.3:c.875G>A, XM_011532622.2:c.875G>A, XM_011532622.1:c.875G>A, NM_001321971.2:c.878G>A, NM_001321971.1:c.878G>A, NM_001321975.2:c.-110G>A, NM_001321975.1:c.-110G>A, NR_135916.2:n.1040G>A, NR_135916.1:n.1068G>A, NR_171657.1:n.1702G>A, NM_001145169.1:c.875G>A, NR_171656.1:n.1433G>A, XM_047443563.1:c.878G>A, XM_047443565.1:c.848G>A, XM_047443564.1:c.857G>A, NM_001145168.1:c.1082G>A, NP_722577.2:p.Ser162Asn, XP_011530923.1:p.Ser302Asn, XP_011530925.1:p.Ser286Asn, XP_011530924.1:p.Ser292Asn, NP_001308900.1:p.Ser293Asn, NP_001138641.1:p.Ser292Asn, XP_047299519.1:p.Ser293Asn, XP_047299521.1:p.Ser283Asn, XP_047299520.1:p.Ser286Asn, NP_001138640.1:p.Ser361Asn

Select item 146978074218.

rs1469780742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26311270 (GRCh38)
2:26534138 (GRCh37)
Canonical SPDI:: NC_000002.12:26311269:G:A
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000002.12:g.26311270G>A, NC_000002.11:g.26534138G>A, NM_153835.4:c.1861C>T, NM_153835.3:c.1861C>T, XM_011532621.4:c.2281C>T, XM_011532621.3:c.2281C>T, XM_011532621.2:c.2281C>T, XM_011532621.1:c.2281C>T, XM_011532623.3:c.2233C>T, XM_011532623.2:c.2233C>T, XM_011532623.1:c.2233C>T, XM_011532622.3:c.2251C>T, XM_011532622.2:c.2251C>T, XM_011532622.1:c.2251C>T, NM_001321971.2:c.2254C>T, NM_001321971.1:c.2254C>T, NM_001321975.2:c.1267C>T, NM_001321975.1:c.1267C>T, NR_135916.2:n.2416C>T, NR_135916.1:n.2444C>T, NR_171657.1:n.3078C>T, NM_001145169.1:c.2251C>T, NR_171656.1:n.2809C>T, XM_047443563.1:c.2254C>T, XM_047443565.1:c.2224C>T, XM_047443564.1:c.2233C>T, NM_001393343.1:c.1267C>T, NM_001145168.1:c.2458C>T

Select item 146944524019.

rs1469445240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTCA>- [Show Flanks]
Chromosome:: 2:26311774 (GRCh38)
2:26534642 (GRCh37)
Canonical SPDI:: NC_000002.12:26311772:ATTTCA:A
Gene:: ADGRF3 (Varview), LOC105374334 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.26311774_26311778del, NC_000002.11:g.26534642_26534646del, NM_153835.4:c.1354_1358del, NM_153835.3:c.1354_1358del, XM_011532621.4:c.1774_1778del, XM_011532621.3:c.1774_1778del, XM_011532621.2:c.1774_1778del, XM_011532621.1:c.1774_1778del, XM_011532623.3:c.1726_1730del, XM_011532623.2:c.1726_1730del, XM_011532623.1:c.1726_1730del, XM_011532622.3:c.1744_1748del, XM_011532622.2:c.1744_1748del, XM_011532622.1:c.1744_1748del, NM_001321971.2:c.1747_1751del, NM_001321971.1:c.1747_1751del, NM_001321975.2:c.760_764del, NM_001321975.1:c.760_764del, NR_135916.2:n.1909_1913del, NR_135916.1:n.1937_1941del, NR_171657.1:n.2571_2575del, NM_001145169.1:c.1744_1748del, NR_171656.1:n.2302_2306del, XM_047443563.1:c.1747_1751del, XM_047443565.1:c.1717_1721del, XM_047443564.1:c.1726_1730del, NM_001393343.1:c.760_764del, NM_001145168.1:c.1951_1955del, NP_722577.2:p.Glu452fs, XP_011530923.1:p.Glu592fs, XP_011530925.1:p.Glu576fs, XP_011530924.1:p.Glu582fs, NP_001308900.1:p.Glu583fs, NP_001308904.1:p.Glu254fs, NP_001138641.1:p.Glu582fs, XP_047299519.1:p.Glu583fs, XP_047299521.1:p.Glu573fs, XP_047299520.1:p.Glu576fs, NP_001380272.1:p.Glu254fs, NP_001138640.1:p.Glu651fs

Select item 146694042820.

rs1466940428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:26313854 (GRCh38)
2:26536722 (GRCh37)
Canonical SPDI:: NC_000002.12:26313853:C:A,NC_000002.12:26313853:C:T
Gene:: ADGRF3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.26313854C>A, NC_000002.12:g.26313854C>T, NC_000002.11:g.26536722C>A, NC_000002.11:g.26536722C>T, NM_153835.4:c.585G>T, NM_153835.4:c.585G>A, NM_153835.3:c.585G>T, NM_153835.3:c.585G>A, XM_011532621.4:c.1005G>T, XM_011532621.4:c.1005G>A, XM_011532621.3:c.1005G>T, XM_011532621.3:c.1005G>A, XM_011532621.2:c.1005G>T, XM_011532621.2:c.1005G>A, XM_011532621.1:c.1005G>T, XM_011532621.1:c.1005G>A, XM_011532623.3:c.957G>T, XM_011532623.3:c.957G>A, XM_011532623.2:c.957G>T, XM_011532623.2:c.957G>A, XM_011532623.1:c.957G>T, XM_011532623.1:c.957G>A, XM_011532622.3:c.975G>T, XM_011532622.3:c.975G>A, XM_011532622.2:c.975G>T, XM_011532622.2:c.975G>A, XM_011532622.1:c.975G>T, XM_011532622.1:c.975G>A, NM_001321971.2:c.978G>T, NM_001321971.2:c.978G>A, NM_001321971.1:c.978G>T, NM_001321971.1:c.978G>A, NM_001321975.2:c.-10G>T, NM_001321975.2:c.-10G>A, NM_001321975.1:c.-10G>T, NM_001321975.1:c.-10G>A, NR_135916.2:n.1140G>T, NR_135916.2:n.1140G>A, NR_135916.1:n.1168G>T, NR_135916.1:n.1168G>A, NR_171657.1:n.1802G>T, NR_171657.1:n.1802G>A, NM_001145169.1:c.975G>T, NM_001145169.1:c.975G>A, NR_171656.1:n.1533G>T, NR_171656.1:n.1533G>A, XM_047443563.1:c.978G>T, XM_047443563.1:c.978G>A, XM_047443565.1:c.948G>T, XM_047443565.1:c.948G>A, XM_047443564.1:c.957G>T, XM_047443564.1:c.957G>A, NM_001393343.1:c.-10G>T, NM_001393343.1:c.-10G>A, NM_001145168.1:c.1182G>T, NM_001145168.1:c.1182G>A, NP_722577.2:p.Gln195His, XP_011530923.1:p.Gln335His, XP_011530925.1:p.Gln319His, XP_011530924.1:p.Gln325His, NP_001308900.1:p.Gln326His, NP_001138641.1:p.Gln325His, XP_047299519.1:p.Gln326His, XP_047299521.1:p.Gln316His, XP_047299520.1:p.Gln319His, NP_001138640.1:p.Gln394His

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