SNP Links for Protein (Select 15147343) - SNP

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Links from Protein

Items: 1 to 20 of 266

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Select item 14886046951.

rs1488604695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4445476 (GRCh38)
12:4554642 (GRCh37)
Canonical SPDI:: NC_000012.12:4445475:A:G
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4445476A>G, NC_000012.11:g.4554642A>G, NM_020996.3:c.95T>C, NM_020996.2:c.95T>C, NM_020996.1:c.95T>C, XM_017018995.2:c.95T>C, XM_017018995.1:c.95T>C, XM_017018996.2:c.95T>C, XM_017018996.1:c.95T>C, NP_066276.2:p.Val32Ala, XP_016874484.1:p.Val32Ala, XP_016874485.1:p.Val32Ala

Select item 14824284852.

rs1482428485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:4434323 (GRCh38)
12:4543489 (GRCh37)
Canonical SPDI:: NC_000012.12:4434322:T:G
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.4434323T>G, NC_000012.11:g.4543489T>G, NM_020996.3:c.519A>C, NM_020996.2:c.519A>C, NM_020996.1:c.519A>C

Select item 14779580953.

rs1477958095 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:4445351 (GRCh38)
12:4554517 (GRCh37)
Canonical SPDI:: NC_000012.12:4445350:A:
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.4445351del, NC_000012.11:g.4554517del, NM_020996.3:c.220del, NM_020996.2:c.220del, NM_020996.1:c.220del, XM_017018995.2:c.220del, XM_017018995.1:c.220del, XM_017018996.2:c.220del, XM_017018996.1:c.220del, NP_066276.2:p.Trp74fs, XP_016874484.1:p.Trp74fs, XP_016874485.1:p.Trp74fs

Select item 14771390384.

rs1477139038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4444164 (GRCh38)
12:4553330 (GRCh37)
Canonical SPDI:: NC_000012.12:4444163:G:A
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_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_000012.12:g.4444164G>A, NC_000012.11:g.4553330G>A, NM_020996.3:c.419C>T, NM_020996.2:c.419C>T, NM_020996.1:c.419C>T, XM_017018995.2:c.419C>T, XM_017018995.1:c.419C>T, XM_017018996.2:c.419C>T, XM_017018996.1:c.419C>T, NP_066276.2:p.Ala140Val, XP_016874484.1:p.Ala140Val, XP_016874485.1:p.Ala140Val

Select item 14765116835.

rs1476511683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:4444213 (GRCh38)
12:4553379 (GRCh37)
Canonical SPDI:: NC_000012.12:4444212:C:G,NC_000012.12:4444212:C:T
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4444213C>G, NC_000012.12:g.4444213C>T, NC_000012.11:g.4553379C>G, NC_000012.11:g.4553379C>T, NM_020996.3:c.370G>C, NM_020996.3:c.370G>A, NM_020996.2:c.370G>C, NM_020996.2:c.370G>A, NM_020996.1:c.370G>C, NM_020996.1:c.370G>A, XM_017018995.2:c.370G>C, XM_017018995.2:c.370G>A, XM_017018995.1:c.370G>C, XM_017018995.1:c.370G>A, XM_017018996.2:c.370G>C, XM_017018996.2:c.370G>A, XM_017018996.1:c.370G>C, XM_017018996.1:c.370G>A, NP_066276.2:p.Glu124Gln, NP_066276.2:p.Glu124Lys, XP_016874484.1:p.Glu124Gln, XP_016874484.1:p.Glu124Lys, XP_016874485.1:p.Glu124Gln, XP_016874485.1:p.Glu124Lys

Select item 14760819016.

rs1476081901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:4445288 (GRCh38)
12:4554454 (GRCh37)
Canonical SPDI:: NC_000012.12:4445287:C:G,NC_000012.12:4445287:C:T
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4445288C>G, NC_000012.12:g.4445288C>T, NC_000012.11:g.4554454C>G, NC_000012.11:g.4554454C>T, NM_020996.3:c.283G>C, NM_020996.3:c.283G>A, NM_020996.2:c.283G>C, NM_020996.2:c.283G>A, NM_020996.1:c.283G>C, NM_020996.1:c.283G>A, XM_017018995.2:c.283G>C, XM_017018995.2:c.283G>A, XM_017018995.1:c.283G>C, XM_017018995.1:c.283G>A, XM_017018996.2:c.283G>C, XM_017018996.2:c.283G>A, XM_017018996.1:c.283G>C, XM_017018996.1:c.283G>A, NP_066276.2:p.Gly95Arg, NP_066276.2:p.Gly95Ser, XP_016874484.1:p.Gly95Arg, XP_016874484.1:p.Gly95Ser, XP_016874485.1:p.Gly95Arg, XP_016874485.1:p.Gly95Ser

Select item 14691294207.

rs1469129420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:4445511 (GRCh38)
12:4554677 (GRCh37)
Canonical SPDI:: NC_000012.12:4445510:G:T
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4445511G>T, NC_000012.11:g.4554677G>T, NM_020996.3:c.60C>A, NM_020996.2:c.60C>A, NM_020996.1:c.60C>A, XM_017018995.2:c.60C>A, XM_017018995.1:c.60C>A, XM_017018996.2:c.60C>A, XM_017018996.1:c.60C>A

Select item 14633599428.

rs1463359942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4444159 (GRCh38)
12:4553325 (GRCh37)
Canonical SPDI:: NC_000012.12:4444158:T:C
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4444159T>C, NC_000012.11:g.4553325T>C, NM_020996.3:c.424A>G, NM_020996.2:c.424A>G, NM_020996.1:c.424A>G, XM_017018995.2:c.424A>G, XM_017018995.1:c.424A>G, XM_017018996.2:c.424A>G, XM_017018996.1:c.424A>G, NP_066276.2:p.Asn142Asp, XP_016874484.1:p.Asn142Asp, XP_016874485.1:p.Asn142Asp

Select item 14627349619.

rs1462734961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4445539 (GRCh38)
12:4554705 (GRCh37)
Canonical SPDI:: NC_000012.12:4445538:A:G
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.4445539A>G, NC_000012.11:g.4554705A>G, NM_020996.3:c.32T>C, NM_020996.2:c.32T>C, NM_020996.1:c.32T>C, XM_017018995.2:c.32T>C, XM_017018995.1:c.32T>C, XM_017018996.2:c.32T>C, XM_017018996.1:c.32T>C, NP_066276.2:p.Met11Thr, XP_016874484.1:p.Met11Thr, XP_016874485.1:p.Met11Thr

Select item 144823021610.

rs1448230216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4445348 (GRCh38)
12:4554514 (GRCh37)
Canonical SPDI:: NC_000012.12:4445347:C:T
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.4445348C>T, NC_000012.11:g.4554514C>T, NM_020996.3:c.223G>A, NM_020996.2:c.223G>A, NM_020996.1:c.223G>A, XM_017018995.2:c.223G>A, XM_017018995.1:c.223G>A, XM_017018996.2:c.223G>A, XM_017018996.1:c.223G>A, NP_066276.2:p.Glu75Lys, XP_016874484.1:p.Glu75Lys, XP_016874485.1:p.Glu75Lys

Select item 144714509511.

rs1447145095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:4445241 (GRCh38)
12:4554407 (GRCh37)
Canonical SPDI:: NC_000012.12:4445240:G:A,NC_000012.12:4445240:G:C,NC_000012.12:4445240:G:T
Gene:: FGF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.4445241G>A, NC_000012.12:g.4445241G>C, NC_000012.12:g.4445241G>T, NC_000012.11:g.4554407G>A, NC_000012.11:g.4554407G>C, NC_000012.11:g.4554407G>T, NM_020996.3:c.330C>T, NM_020996.3:c.330C>G, NM_020996.3:c.330C>A, NM_020996.2:c.330C>T, NM_020996.2:c.330C>G, NM_020996.2:c.330C>A, NM_020996.1:c.330C>T, NM_020996.1:c.330C>G, NM_020996.1:c.330C>A, XM_017018995.2:c.330C>T, XM_017018995.2:c.330C>G, XM_017018995.2:c.330C>A, XM_017018995.1:c.330C>T, XM_017018995.1:c.330C>G, XM_017018995.1:c.330C>A, XM_017018996.2:c.330C>T, XM_017018996.2:c.330C>G, XM_017018996.2:c.330C>A, XM_017018996.1:c.330C>T, XM_017018996.1:c.330C>G, XM_017018996.1:c.330C>A, NP_066276.2:p.His110Gln, NP_066276.2:p.His110Gln, XP_016874484.1:p.His110Gln, XP_016874484.1:p.His110Gln, XP_016874485.1:p.His110Gln, XP_016874485.1:p.His110Gln

Select item 144163276512.

rs1441632765 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:4445273 (GRCh38)
12:4554439 (GRCh37)
Canonical SPDI:: NC_000012.12:4445272:CC:
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.4445273_4445274del, NC_000012.11:g.4554439_4554440del, NM_020996.3:c.297_298del, NM_020996.2:c.297_298del, NM_020996.1:c.297_298del, XM_017018995.2:c.297_298del, XM_017018995.1:c.297_298del, XM_017018996.2:c.297_298del, XM_017018996.1:c.297_298del, NP_066276.2:p.Gln99fs, XP_016874484.1:p.Gln99fs, XP_016874485.1:p.Gln99fs

Select item 143031017013.

rs1430310170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:4445444 (GRCh38)
12:4554610 (GRCh37)
Canonical SPDI:: NC_000012.12:4445443:G:A,NC_000012.12:4445443:G:C
Gene:: FGF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4445444G>A, NC_000012.12:g.4445444G>C, NC_000012.11:g.4554610G>A, NC_000012.11:g.4554610G>C, NM_020996.3:c.127C>T, NM_020996.3:c.127C>G, NM_020996.2:c.127C>T, NM_020996.2:c.127C>G, NM_020996.1:c.127C>T, NM_020996.1:c.127C>G, XM_017018995.2:c.127C>T, XM_017018995.2:c.127C>G, XM_017018995.1:c.127C>T, XM_017018995.1:c.127C>G, XM_017018996.2:c.127C>T, XM_017018996.2:c.127C>G, XM_017018996.1:c.127C>T, XM_017018996.1:c.127C>G, NP_066276.2:p.Arg43Cys, NP_066276.2:p.Arg43Gly, XP_016874484.1:p.Arg43Cys, XP_016874484.1:p.Arg43Gly, XP_016874485.1:p.Arg43Cys, XP_016874485.1:p.Arg43Gly

Select item 142794983714.

rs1427949837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4445516 (GRCh38)
12:4554682 (GRCh37)
Canonical SPDI:: NC_000012.12:4445515:G:A
Gene:: FGF6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4445516G>A, NC_000012.11:g.4554682G>A, NM_020996.3:c.55C>T, NM_020996.2:c.55C>T, NM_020996.1:c.55C>T, XM_017018995.2:c.55C>T, XM_017018995.1:c.55C>T, XM_017018996.2:c.55C>T, XM_017018996.1:c.55C>T, NP_066276.2:p.Gln19Ter, XP_016874484.1:p.Gln19Ter, XP_016874485.1:p.Gln19Ter

Select item 142207981315.

rs1422079813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4444156 (GRCh38)
12:4553322 (GRCh37)
Canonical SPDI:: NC_000012.12:4444155:T:C
Gene:: FGF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.4444156T>C, NC_000012.11:g.4553322T>C, NM_020996.3:c.427A>G, NM_020996.2:c.427A>G, NM_020996.1:c.427A>G, XM_017018995.2:c.427A>G, XM_017018995.1:c.427A>G, XM_017018996.2:c.427A>G, XM_017018996.1:c.427A>G, NP_066276.2:p.Ser143Gly, XP_016874484.1:p.Ser143Gly, XP_016874485.1:p.Ser143Gly

Select item 141960661416.

rs1419606614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4445249 (GRCh38)
12:4554415 (GRCh37)
Canonical SPDI:: NC_000012.12:4445248:C:T
Gene:: FGF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.4445249C>T, NC_000012.11:g.4554415C>T, NM_020996.3:c.322G>A, NM_020996.2:c.322G>A, NM_020996.1:c.322G>A, XM_017018995.2:c.322G>A, XM_017018995.1:c.322G>A, XM_017018996.2:c.322G>A, XM_017018996.1:c.322G>A, NP_066276.2:p.Gly108Arg, XP_016874484.1:p.Gly108Arg, XP_016874485.1:p.Gly108Arg

Select item 141599180717.

rs1415991807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:4445379 (GRCh38)
12:4554545 (GRCh37)
Canonical SPDI:: NC_000012.12:4445378:C:G,NC_000012.12:4445378:C:T
Gene:: FGF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.4445379C>G, NC_000012.12:g.4445379C>T, NC_000012.11:g.4554545C>G, NC_000012.11:g.4554545C>T, NM_020996.3:c.192G>C, NM_020996.3:c.192G>A, NM_020996.2:c.192G>C, NM_020996.2:c.192G>A, NM_020996.1:c.192G>C, NM_020996.1:c.192G>A, XM_017018995.2:c.192G>C, XM_017018995.2:c.192G>A, XM_017018995.1:c.192G>C, XM_017018995.1:c.192G>A, XM_017018996.2:c.192G>C, XM_017018996.2:c.192G>A, XM_017018996.1:c.192G>C, XM_017018996.1:c.192G>A

Select item 141289844618.

rs1412898446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:4445290 (GRCh38)
12:4554456 (GRCh37)
Canonical SPDI:: NC_000012.12:4445289:A:C,NC_000012.12:4445289:A:G
Gene:: FGF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4445290A>C, NC_000012.12:g.4445290A>G, NC_000012.11:g.4554456A>C, NC_000012.11:g.4554456A>G, NM_020996.3:c.281T>G, NM_020996.3:c.281T>C, NM_020996.2:c.281T>G, NM_020996.2:c.281T>C, NM_020996.1:c.281T>G, NM_020996.1:c.281T>C, XM_017018995.2:c.281T>G, XM_017018995.2:c.281T>C, XM_017018995.1:c.281T>G, XM_017018995.1:c.281T>C, XM_017018996.2:c.281T>G, XM_017018996.2:c.281T>C, XM_017018996.1:c.281T>G, XM_017018996.1:c.281T>C, NP_066276.2:p.Ile94Ser, NP_066276.2:p.Ile94Thr, XP_016874484.1:p.Ile94Ser, XP_016874484.1:p.Ile94Thr, XP_016874485.1:p.Ile94Ser, XP_016874485.1:p.Ile94Thr

Select item 140891103519.

rs1408911035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4445365 (GRCh38)
12:4554531 (GRCh37)
Canonical SPDI:: NC_000012.12:4445364:A:G
Gene:: FGF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4445365A>G, NC_000012.11:g.4554531A>G, NM_020996.3:c.206T>C, NM_020996.2:c.206T>C, NM_020996.1:c.206T>C, XM_017018995.2:c.206T>C, XM_017018995.1:c.206T>C, XM_017018996.2:c.206T>C, XM_017018996.1:c.206T>C, NP_066276.2:p.Ile69Thr, XP_016874484.1:p.Ile69Thr, XP_016874485.1:p.Ile69Thr

Select item 140769998420.

rs1407699984 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:4434313 (GRCh38)
12:4543479 (GRCh37)
Canonical SPDI:: NC_000012.12:4434312:GG:G
Gene:: FGF6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4434314del, NC_000012.11:g.4543480del, NM_020996.3:c.529del, NM_020996.2:c.529del, NM_020996.1:c.529del, NP_066276.2:p.Gln177fs

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